Anterior Fontanelle Research Articles

Clinical analysis on 430 cases of infantile purulent meningitis.

BackgroundPurulent meningitis (PM) usually caused by a variety of pyogenic infection, is a kind of central nervous system infectious disease mostly common in children. It is easily misdiagnosed and its symptoms are varied. Excessive application of broad-spectrum antibiotics results in increased sickness and death of infants and young children. In this study, clinical data of 430 cases of PM in infants were analyzed to summarize the clinical experiences so as to achieve early diagnosis and early treatment of PM.ResultsMale-to-female ratio was 1.61:1, and the median age of incidence was 0.42 years. May was the modal month of onset (11.7%). Main clinical manifestations were fever (89.3%), vomiting (67.2%), mental fatigue (62.1%), anterior fontanelle full/bulging/high tension (54.2%), convulsion (52.6%), and meningeal irritation sign (24.7%). Cerebrospinal fluid (CSF) bacterial culture was done for 420 cases, of which 1.2% cases were positive. Blood culture was done for 146 cases of which 15.1% were positive. 175 (40.7%) cases had complications, among which 133 cases (76.0%) were subdural effusion, 21 cases (12.0%) were epilepsy.ConclusionInfantile PM is common in Spring, and May is the modal month of onset. The CSF/blood pathogen detection rate is very low and it is difficult to find evidence of cause. Fever, vomiting, mental fatigue and anterior fontanelle full/bulging/high tension, convulsion are the main clinical manifestations on which diagnosis depends. For those children diagnosed as PM and still having recurrent fever and prominent anterior fontanelle after treatment, clinicians should consider the probability of subdural effusion and treat them with brain imaging test on time.

Congenital Dermoid Cyst over the Anterior Fontanel in an Infant

Congenital desmoids inclusion cyst over the anterior fontanel (CDIC) is an uncommon cystic lesion in an infant. It is a benign and curative lesion and can be diagnosed at birth. Here we report a rare case of CDIC in an 8month old baby over the anterior fontanelle which was removed surgically.

Satan's skeleton revealed: a tomographic and comparative osteology of Satan eurystomus, the subterranean Widemouth Blindcat (Siluriformes, Ictaluridae)

The Widemouth Blindcat, Satan eurystomus Hubbs and Bailey 1947, was the second of four stygobitic species of Ictaluridae discovered in the subterranean waters of southern Texas and northeastern Mexico. The skeletal anatomy of Satan has been scarcely known from a few, dated radiographs. Using additional radiographs and high resolution CT-datasets for two well-ossified specimens, we applied high-resolution X-ray computed tomography (HRXCT) to visualize, illustrate and describe the bony skeleton of Satan. We also provide an online archive of still and animated tomographic images of the skeletal anatomy of this little-known species.The skeleton and soft anatomy of Satan are distinctive. Twelve skeletal autapomorphies are described that singularly distinguish Satan within Ictaluridae and, probably in combination, from all other catfishes. Some of these are reductive losses or simplifications of skull bones (e.g. loss of one infraorbital bone; reduced ornamentation of the pterotic bone) and joint complexity (e.g. simple overlapping frontal-lateral ethmoid articulation; loosely ligamentous interopercle-posterior ceratohyal joint). Some of the autapomorphies are anatomically and perhaps developmentally complex (e.g. a novel series of three midline joints closing a middle span of the posterior cranial fontanel; a deeply excavated temporal fossa and an unusually enlarged interhyal bone). The tiny dorsal-fin spinelet (first lepidotrich) of Satan has a novel peaked and twisted shape.Ten apparent and exclusive synapomorphies within Ictaluridae gathered from this and previous studies suggest that Satan and Pylodictis are closest relatives. Most of these are functionally related to prey detection and suction feeding: fusion of the symphyseal mandibular sensory pores and increase in the number of preoperculo-mandibular canal pores; depressed, flattened heads and wide transverse mouths; prominent posterior process of the lateral ethmoid alongside and below the frontal bone margin; vertical and blade-like supraoccipital posterior process; unique arrangement of the parasagittal and occipital muscleattachment crests on the skull roof; large triangular panel of integument within the operculum framed by the opercle, preopercle and interopercle bones; elongated posterior ceratohyal; and, form of the fourth supraneural and loss of its anterior nuchal plate.In contrast, 15 synapomorphies recovered by Arce-H. et al. 2016, are confirmed suggesting that Satan is one of the four stygobitic ictalurids comprising a “Troglobites” subclade within the family: (Trogloglanis, Satan, Prietella phreatophila, P. lundbergi). These features include three stygomorphic and reductive apomorphies that are exclusive within Ictaluridae: loss of fully developed eyes and pigmentation, and simplification of the fifth vertebra and its joint with the Weberian apparatus. Twelve other synapomorphies shown by the Troglobites are also apparent homoplasies of character states shared with various other ictalurids. These include reductive characters such as shortened lateral line canal, reduced infraorbitals and underdeveloped or incomplete ossifications of the pterotic, supraoccipital, hyoid arch bones and transcapular ligament. Also, the Troglobites and various other ictalurids have: an adnate adiposecaudal fin, foreshortened anterior cranial fontanelle, reduced ventral wings of the frontal bone, replacement of bone by cartilage in hypohyal joints; incompletely ossified transcapular ligament, and consolidation of some hypural bones.Completing a full morphological character dataset across the Troglobites has been impeded by incomplete specimen preparations and study of P. lundbergi and to a lesser extent, P. phreatophila and Trogloglanis.

The diagnostic yield of ultrasound of the head in healthy infants presenting with the clinical diagnosis of benign macrocrania

To investigate the frequency of sonographic findings that required neurosurgical consultation for all referred outpatients suspected to have benign macrocrania (BMC). A retrospective review was performed from September 2011 until June 2015 for all outpatients referred to the ultrasound (US) department for BMC. Electronic medical records, US images, and reports were reviewed in conjunction with follow-up imaging. Each review consisted of gender, specialty of referring physician, first head circumference, head circumference at or closest to the time of the head US, the last head circumference, and any neurological issue prior to the US, at the time of US, or following the US, and clinical outcomes. Statistical analysis employed the Kruskal-Wallis rank sum test and Fischer's exact test (chi square test of independence) that compared normal/BMC patients from the patients requiring a neurosurgical consultation. One hundred and thirty (40.9%) had a normal head US, 181 patients (56.9%) had sonographic findings of BMC, and seven (2.2%) patients had an abnormal head US that required a neurosurgical consultation. Of the 181 patients with BMC, 23 underwent follow-up imaging with 22 patients having unchanged BMC or a normal head US and one patient developing mild ventriculomegaly that was stable on follow-up imaging. Three of the seven patients (1%) aged 1.8, 2.3, and 13.1 months with abnormal head US requiring neurosurgical consultation, had mild ventriculomegaly that was stable on follow-up imaging. Four of the seven patients (1.2%) that required neurosurgical consultation needed a neurosurgical procedure. Between the two US subgroups (normal and BMC), no statistical significance was noted regarding age of patient at US, head circumference at clinical and radiological presentation (p>0.05) except for the first head circumference clinically documented which demonstrated statistical significance (p<0.03). Short interval surveillance including head circumference and assessment for the development of bulging anterior fontanelle and neurological abnormalities may be more cost effective than US in the initial evaluation of patients clinically suspected to have BMC.

Intracranial hemorrhage in hemorrhagic disease of the newborn

Background Hemorrhagic disease of the newborn (HDN) repre-sents a special case of vitamin K deficiency because the four vita-min K-coagulation factors (factors II,VII,IX,X) are already at physi-ologically low levels in the newborn. It responds to vitamin Ktherapy.Objective The aim of this study was to review the incidence, clini-cal manifestation, and outcome of HDN.Methods This was a retrospective cross sectional study on 22patients hospitalized for HDN in the Department of Child Health,Cipto Mangunkusumo Hospital from January 1997 until Decem-ber 2001. Data were obtained from medical records.Results The commonest age group (17 out of 22) was 1–3 month-old. Normal delivery was found in 19 patients and only 3 patientsreceived prophylaxis vitamin K. Almost all of them (20 out of 22)were exclusively breastfed. Seizure, pallor, decreased conscious-ness, and bulging of the anterior fontanel were significant clinicalmanifestations found in 21, 21, 13, and 9 patients respectively.Based on brain USG and/or CT scan, intracranial hemorrhage wasfound in 19 patients. Six out of 22 patients died and 7 patientssurvived with handicapConclusion Intracranial hemorrhage due to vitamin K mostly oc-curred at the age of 1 to 3 month-old. The commonest clinical mani-festations were seizure, pallor, decreased consciousness, andbulging of the anterior fontanel. Prevention by giving vitamin K rou-tinely to all newborn babies is recommended

A new species of Ituglanis (Siluriformes: Trichomycteridae) from the Tocantins and Paranaíba river basins, central Brazil, with remarks on the systematics of the genus.

Ituglanis goya, new species, is described from the Paranaíba and Tocantins river drainages, central Brazil. This is the first species of the genus described for the Upper Paraná system and the second epigean Ituglanis for the Tocantins basin. The new species is distinguished from its congeners by the combination of a color pattern formed by longitudinal stripes and spots, absence of the anterior cranial fontanel, pattern of the cephalic laterosensory system and several fin-ray counts. Ituglanis goya exhibits morphological features that oppose the traditional hypotheses of alignment of the genus with the TSVSG clade of Trichomycteridae. These and other issues concerning the systematics of Ituglanis and the Trichomycterinae are critically discussed.

Clinical and genetic aspects of KBG syndrome.

KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat‐containing cofactors. We describe 32 KBG patients aged 2–47 years from 27 families ascertained via two pathways: targeted ANKRD11 sequencing (TS) in a group who had a clinical diagnosis of KBG and whole exome sequencing (ES) in a second group in whom the diagnosis was unknown. Speech delay and learning difficulties were almost universal and variable behavioral problems frequent. Macrodontia of permanent upper central incisors was seen in 85%. Other clinical features included short stature, conductive hearing loss, recurrent middle ear infection, palatal abnormalities, and feeding difficulties. We recognized a new feature of a wide anterior fontanelle with delayed closure in 22%. The subtle facial features of KBG syndrome were recognizable in half the patients. We identified 20 ANKRD11 mutations (18 novel: all truncating) confirmed by Sanger sequencing in 32 patients. Comparison of the two ascertainment groups demonstrated that facial/other typical features were more subtle in the ES group. There were no conclusive phenotype–genotype correlations. Our findings suggest that mutation of ANKRD11 is a common Mendelian cause of developmental delay. Affected patients may not show the characteristic KBG phenotype and the diagnosis is therefore easily missed. We propose updated diagnostic criteria/clinical recommendations for KBG syndrome and suggest that inclusion of ANKRD11 will increase the utility of gene panels designed to investigate developmental delay. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

The relationship between transorbital ultrasound measurement of the optic nerve sheath diameter (ONSD) and invasively measured ICP in children. : Part II: age-related ONSD cut-off values and patency of the anterior fontanelle.

To analyse the diagnostic accuracy of age-related optic nerve sheath diameter (ONSD) cut-off values in children for detecting raised intracranial pressure (ICP) and to assess the benefit of using patency of the anterior fontanelle in describing a different set of cut-off values. The ONSD measurement was performed prior to invasive ICP measurement in children under general anesthesia. The diagnostic accuracy of the ONSD measurement was compared to ICP at thresholds of 20, 15, 10, and 5mmHg. This was further analysed in children above and below the age of 1year, with a subgroup analysis of age at 4years, and assessment of the anterior fontanelle (AF) as a reliable physiological marker in part II of this study. Data from 174 children were analysed. In children ≤1year old, the ONSD measurement with the best diagnostic accuracy for detecting ICP≥20mmHg was 5.16mm, compared to 5.75mm in children >1year old (p<0.001). In addition, patency of the anterior fontanelle (AF) was found to be a useful clinical marker for defining different ONSD cut-off values at ICP thresholds of 20, 15, 10 and 5mmHg. Transorbital ultrasound measurement of the ONSD is a reliable non-invasive marker of ICP particularly at higher thresholds of 20 and 15mmHg. Patency of the AF is a useful clinical marker for defining different ONSD cut-off values in children.

Norms for size and closure time of anterior fontanelle: A study on babies in Nagpur region

Intraventricular hemorrhage (IVH) or bleed within the cerebral ventricles is a common condition among very low birth weight pre-term neonates. The prognosis for these patients is worsened should they develop progressive ventricular dilatation, i.e., post-hemorrhagic ventricle dilatation (PHVD), which occurs in 10–30% of IVH patients. Accurate measurement of ventricular volume would be valuable information and could be used to predict PHVD and determine whether that specific patient with ventricular dilatation requires treatment. While the monitoring of PHVD in infants is typically done by repeated transfontanell 2D ultrasound (US) and not MRI, once the patient's fontanels have closed around 12–18 months of life, the follow-up patient scans are done by MRI. Manual segmentation of ventricles from MR images is still seen as a gold standard. However, it is extremely time- and labor-consuming, and it also has observer variability. This paper proposes an accurate multiphase geodesic level-set segmentation algorithm for the extraction of the cerebral ventricle system of pre-term PHVD neonates from 3D T1 weighted MR images. The proposed segmentation algorithm makes use of multi-region segmentation technique associated with spatial priors built from a multi-atlas registration scheme. The leave-one-out cross validation with 19 patients with mild enlargement of ventricles and 7 hydrocephalus patients shows that the proposed method is accurate, suggesting that the proposed approach could be potentially used for volumetric and morphological analysis of the ventricle system of IVH neonatal brains in clinical practice.

Acrocallosal Syndrome in a 6-Month-Old Pakistani Infant

Acrocallosal syndrome is a rare autosomal recessive disorder. The prevalence of the disease is not known but fewer than 55 cases have been published since 1979. ACS is characterized by the total or partial absence of the corpus callosum, Minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils and large anterior fontanel) moderate to severe psychomotor retardation (with hypotonia), polydactyly or polysyndactyly. We are reporting a case of 6 month old infant child who was admitted to the hospital with pneumonia, measles, episodes of fits, large anterior fontanelle, prominent forehead, high arched palate, fused tongue, micrognathism , hypotonia, motor developmental delay , polysyndactyly and absent corpus callosum. His clinical diagnosis was confirmed by CT-Brain. The patient was managed for superimposed pneumonia and measles. He was provided with other supportive treatment as well as parental counseling, physiotherapy sessions, and multiple disciplinary approaches was undertaken for further management.

Attitudes of Pediatricians Regarding Prevention and Treatment of Vitamin D Deficiency.

To determine the adherence of pediatricians to the nationwide ‘Vitamin D Prophylaxis Program’ and to evaluate their attitudes about vitamin D intake. The study was conducted using the Turkish National Pediatrics Association network. The pediatricians were asked to respond to an online questionnaire that included five questions on ‘What dose of vitamin D they recommend for supplementation?’, ‘At what age they start vitamin D supplementation?’, ‘Supplementation method’, ‘Clichés and truths about vitamin D’, and ‘High-dose vitamin D therapy indications’. Responses of 167 pediatricians were evaluated in this study. 75.5% of pediatricians indicated that they recommended vitamin D supplementation in a daily dose of 400 IU. 47.1% started vitamin D supplementation by the end of the 2nd week. 7.83% of pediatricians suggested doubling the daily dose of vitamin D supplementation in infants with delayed tooth eruption, 19.9% suggested immediate cessation of vitamin D supplementation in infants with small anterior fontanels. This study showed that the majority of the pediatricians still prescribe vitamin D prophylaxis late, recommend high doses of vitamin D in cases of delayed tooth eruption, and think that low serum 25-hydroxy vitamin D level regardless of alkaline or phosphatase parathyroid hormone measurement is an indication for high-dose vitamin D (stoss) therapy. These results suggest a need for new training programs focusing on vitamin D supplementation.

Endoscopic third ventriculostomy with choroid plexus cauterization outcome: distinguishing success from failure.

OBJECTIVE Endoscopic third ventriculostomy with choroid plexus cauterization (ETV/CPC) offers an alternative to shunt treatment for infantile hydrocephalus. Diagnosing treatment failure is dependent on infantile hydrocephalus metrics, including head circumference, fontanel quality, and ventricle size. However, it is not clear to what degree these metrics should be expected to change after ETV/CPC. Using these clinical metrics, the authors present and analyze the decision making in cases of ETV/CPC failure. METHODS Infantile hydrocephalus metrics, including bulging fontanel, head circumference z-score, and frontal and occipital horn ratio (FOHR), were compared between ETV/CPC failures and successes. Treatment outcome predictive values of metrics individually and in combination were calculated. RESULTS Forty-four patients (57% males, median age 1.2 months) underwent ETV/CPC for hydrocephalus; of these patients, 25 (57%) experienced failure at a median time of 51 days postoperatively. Patients experiencing failure were younger than those experiencing successful treatment (0.8 vs 3.9 months, p = 0.01). During outpatient follow-up, bulging anterior fontanel, progressive macrocephaly, and enlarging ventricles each demonstrated a positive predictive value (PPV) of no less than 71%, but a bulging anterior fontanel remained the most predictive indicator of ETV/CPC failure, with a PPV of 100%, negative predictive value of 73%, and sensitivity of 72%. The highest PPVs and specificities existed when the clinical metrics were present in combination, although sensitivities decreased expectedly. Only 48% of failures were diagnosed on the basis all 3 hydrocephalus metrics, while only 37% of successes were negative for all 3 metrics. In the remaining 57% of patients, a diagnosis of success or failure was made in the presence of discordant data. CONCLUSIONS Successful ETV/CPC for infantile hydrocephalus was evaluated in relation to fontanel status, head growth, and change in ventricular size. In most patients, a designation of failure or success was made in the setting of discordant data.

Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly

ObjectivePrenatal diagnosis of concomitant chromosome 5p deletion syndrome and chromosome 7p duplication syndrome in a fetus with abnormal prenatal ultrasound is presented. Case ReportA 34-year-old woman was referred for amniocentesis at 22 weeks of gestation because of an irregular-shaped skull, bilateral ventriculomegaly, and nuchal cystic hygroma. Amniocentesis revealed a derivative chromosome 5 with a distal 5p deletion and an addendum of an extra unknown chromosomal segment at the breakpoint of 5p. Cytogenetic analysis of parental bloods revealed a karyotype of 46, XX, t(5;7)(p15.1;p15.2) in the mother and a karyotype of 46,XY in the father. The karyotype of the fetus was 46, XX, der(5) t(5;7)(p15.1;p15.2)mat consistent with partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter). A malformed fetus was subsequently delivered with an irregular-shaped skull, a large anterior fontanelle, brachycephaly, hypertelorism, a high and prominent forehead, a large nuchal cystic hygroma, large low-set ears, a short and flattened nose, and micrognathia. Array comparative genomic hybridization analysis of the placenta revealed the result of arr 5p15.33p15.1 (22,179-18,133,327)×1.0, 7p22.3p15.2 (54,215-25,551,540)×3.0, indicating an 18.11-Mb deletion of 5p (5p15.33-p15.1) and a 22.5-Mb duplication of 7p (7p22.3-p15.2). Cord blood sampling revealed a karyotype of 46, XX, der(5)t(5;7) (p15.1;p15.2)mat. ConclusionFetuses with 5p deletion syndrome and 7p duplication syndrome may present ventriculomegaly, abnormal skull development, and cystic hygroma on prenatal ultrasound.

Macrocephaly and right arm disuse in a 7-month-old boy

B.Desmoplastic infantile ganglioglioma The patient underwent gross total resection, and final pathology was consistent with desmoplastic infantile ganglioglioma (DIG). Intraoperatively, the tumor body was firmly attached to the dura and had an associated cystic nodule (Fig. 2A). Pathological examination of the specimen demonstrated tumor mainly in the leptomeninges, which was well-demarcated from the adjacent brain (Fig. 2B). The leptomeningeal component consisted primarily of desmoplastic areas and scattered foci with different cell types. Mitotic figures were very rare and only very minimal necrosis was visualized. The adjacent brain demonstrated mainly perivascular infiltrate, with few individual tumor cells infiltrating the cortex. Accordingly, the Ki-67 immunolabeling was low (1–5%). As the patient underwent gross total surgical resection (Fig. 2C, D) with no residual enhancement on MRI (Fig. 2E), no further adjuvant therapy was necessary. DIG is a very rare childhood tumor almost always presenting before 2 years of age [[1]Tamburrini G. Colosimo Jr., C. Giangaspero F. et al.Desmoplastic infantile ganglioglioma.Child’s Nerv Syst: ChNS. 2003; 19: 292-297Crossref PubMed Scopus (72) Google Scholar]. Its etiology is unknown, although is likely prenatal in origin. Common presenting signs and symptoms include macrocephaly, hemiparesis, and/or signs of elevated intracranial pressure [[2]Blount J.P. Bauer D.F. Desmoplastic infantile gangliogliomas.in: Tonn J.-C. Westphal M. Rutka J.T. Oncology of CNS Tumors. Springer, Berlin Heidelberg2010: 477-481Crossref Scopus (2) Google Scholar]. CT scan and MRI demonstrate an aggressive-appearing tumor, which can appear similar to primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, pleomorphic xanthoastrocytoma, or ganglioglioma [[3]Alexiou G.A. Stefanaki K. Sfakianos G. et al.Desmoplastic infantile ganglioglioma: a report of 2 cases and a review of the literature.Pediatr Neurosurg. 2008; 44: 422-425Crossref PubMed Scopus (22) Google Scholar]; therefore the diagnosis cannot definitively be made with imaging alone. The mainstay of treatment is surgical resection, which is considered curative [[1]Tamburrini G. Colosimo Jr., C. Giangaspero F. et al.Desmoplastic infantile ganglioglioma.Child’s Nerv Syst: ChNS. 2003; 19: 292-297Crossref PubMed Scopus (72) Google Scholar]. Chemotherapy is reserved for cases of brain invasion, or when partial resection is followed by radiographic evidence of non-operable disease progression. Radiotherapy may be used as a last resort in children over 5 years of age when other approaches have failed. The prognosis of both complete and partially resected DIG is excellent. Partial resection is often followed by disease stability or spontaneous regression, with a median disease-free survival of 8 to 30 years reported [[3]Alexiou G.A. Stefanaki K. Sfakianos G. et al.Desmoplastic infantile ganglioglioma: a report of 2 cases and a review of the literature.Pediatr Neurosurg. 2008; 44: 422-425Crossref PubMed Scopus (22) Google Scholar]. There are rare reports of local recurrence and/or metastasis, usually associated with deep-seated, particularly suprasellar tumor locations. Surveillance MRIs are generally recommended until stable disease has persisted for some time. Lifetime surveillance does not appear to be necessary as there are no reports of long-term recurrence [[2]Blount J.P. Bauer D.F. Desmoplastic infantile gangliogliomas.in: Tonn J.-C. Westphal M. Rutka J.T. Oncology of CNS Tumors. Springer, Berlin Heidelberg2010: 477-481Crossref Scopus (2) Google Scholar]. Macrocephaly and right arm disuse in a 7-month-old boyJournal of Clinical NeuroscienceVol. 34PreviewA 7-month-old boy presented with macrocephaly (head circumference of 52 cm, 2.5 standard deviations above the 98th percentile). An examination of his cranial contour demonstrated prominent dilated scalp vessels, an elevated and full anterior fontanelle, and mild splaying of the coronal and sagittal sutures. He maintained his right hand in a fisted position, and would not reach towards objects or faces with his right hand; his right upper extremity was also significantly hypertonic. A neurological examination of his cranial nerves and other limbs was otherwise normal. Full-Text PDF

Eosinophilic Meningitis in an Infant

Eosinophilic meningitis is less common in children and its clinical manifestations may be different from adults. We report a 12-month-old infant who presented with irritability and bulging anterior fontanelle. His cerebrospinal fluid (CSF) analysis revealed total leucocyte count of 750 cells/mm3 (eosinophils: 20%). He was treated with corticosteroids and serial lumbar punctures. He responded well to treatment and had no neurological sequelae. At follow-up his CSF analysis showed improving trends. Eosinophiic meningitis is rare and treatment is supportive and this is probably the youngest case to be reported from India.

Displasia cleidocraneal: presentación de un caso

La displasia cleidocraneal es una displasia esquelética de herencia autosómicadominante caracterizada por anomalías craneales, claviculares y dentales, causada por mutaciones o deleciones en el gen RUNX2. Se presenta el caso de una niña de 6,5 años que acude remitida por un retraso en el cierre de la fontanela anterior y en la osificación de la pelvis, en quien se realiza el diagnóstico por hallazgos clínicos y radiológicos.

An emerging, recognizable facial phenotype in association with mutations in GLI‐similar 3 (GLIS3)

Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by enlarged kidneys and multiple small cysts with deficient cortico-medullary junction differentiation and normal kidney function. There was minor facial dysmorphism (depressed nasal bridge, large anterior fontanelle, long philtrum) reported but no facial photographs were published. Mutations in the transcription factor GLI-similar 3 (GLIS3) gene in the original family and two other families were subsequently reported in 2006. All affected individuals had neonatal diabetes, congenital hypothyroidism but glaucoma and liver and kidney involvement were less consistent features. Detailed descriptions of the facial dysmorphism have not been reported previously. In this report, we describe the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated, upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations and report the emergence of a distinct, probably recognizable facial gestalt in this group which evolves with age. © 2016 Wiley Periodicals, Inc.

A rare case of acrocephaly: Saethre-Chotzen syndrome or Crouzon?

Abstract Acrocephaly is a common neonatal craniofacial malformation. Saethre-Chotzen syndrome (SCS) is one of the acrocephaly related syndromes less frequently described in the literature. A female newborn term was admitted to our Neonatal Unit to study craniofacial dysmorphia without family history of interest. Pregnancy, childbirth and the neonatal period were uneventful. She had exotropia, short anterior-posterior cranial diameter, flat occiput and wide normotensive anterior fontanelle (beginning at the nose root, continuing through the sagittal suture with the posterior fontanelle) without syndactyly. The scanner imaging confirmed an acrocephaly with fusion of bilateral coronal sutures. We initially suspected a cranyosinostosis due to a Crouzon syndrome or SCS. After differential diagnosis and genetic study the patient was diagnosed as having SCS due to a de novo TWIST1 gene mutation. The craniofacial dysmorphias were corrected early by neurosurgical with good results. This case shows a new example of the phenotypic and genotypic variability of these TWIST1 gene mutations.

Quantification of the timing of anterior fontanelle closure in a Western Australian population

Closure of the anterior fontanelle is generally accepted to occur within the first two years of life. However, statistical quantification of the precise timing of closure in a Western Australian population has not been explored. The current study examined MDCT scans of 68 individuals between birth and 3.91 years to assess the timing of anterior fontanelle closure. Using OsiriX, the scans are viewed in axial and multi-planar reconstructed (MPR) images and three-dimensional volume rendered reconstructions. Anterior fontanelle fusion status was quantified using two methods: calculating anterior fontanelle area and by taking the oblique linear distances of the open fontanelle. The single greatest proportion of fusion was shown to occur in the first year of life, by which stage only 47.19% of the fontanelle remains unfused (on average by area). There was only one individual demonstrating complete fusion before 1 year of age (0.86 years) with no single individual presenting an open fontanelle beyond 2.4 years of age. The current study outlines statistically quantitated data that facilitates forensic age estimation (either macroscopic or radiographic) specific to Australian individuals from the perinate to early childhood life stages.

Norms for size and closure time of anterior fontanelle: a study on babies in Nagpur region

Abstract Background and aims : Anterior fontanelle development in children is affected by several factors ranging from physical to geographical. While the impact of factors such as gestational age (GA) and gender are clearly established, the influences of region and ethnicity vary in the published literature. The objectives of the study were: 1. To measure the anterior fontanelle size (AFS) and closure time of babies aging from newborn to two years of age in respect to its gender and term status in Nagpur babies. 2. To evaluate the relationship of our fmdings with growth parameters. Methods : Measurements were done on 808 babies according to Popich and Smith method. Measurements on newborn were done after 48 hours of birth. Z-test of significance and Pearson's correlation coefficient are used for analysis. Results : Mean AFS ranged from 4.95±2.15 to 0.94±0.05 cms in preterm babies and 4.24±2.21 to 1.32±0.21 cms in full term babies. Mean AFS ranging from 4.48±2.26 to 1.31±0.22 and 4.02±2.20 to 1.24±0.13 cms were observed in male and female babies respectively. Study revealed no significant difference in AFS between full term and preterm &amp; male and female babies. Around 20% fontanels are closed around sixth month. Less than 1% fontanels were open around 22-24 months. No significant difference in closure time was found. AF size had significant correlation with growth parameters of full term babies (weight r = - 0.37, p = 0.00) (head circumference r = - 0.30, p = 0.00) (crown heel length r = - 0.39, p = 0.00). AF closure time showed a significant relationship with growth parameters (weight r = 0.77, p = 0.00) (head circumference r = 0.72, p = 0.00) (crown heel length r = 0.85, p = 0.00). Conclusion : AF sizes obtained in this study are recommended for use as local values for reference in assessing term and preterm babies born in Nagpur.