Large Fontanelle Research Articles

Screening T4 and TSH in Early Detection of Congenital Hypothyroidism in Newborns: What’s the Dilemma?

Untreated congenital hypothyroidism (CH) leads to intellectual disability. Newborn screening (NBS) for CH should be done on all infants. Prompt diagnosis by NBS leads to early and adequate treatment outcomes in very normal neurocognitive outcomes in adulthood. Newborn screening (NBS) for congenital hypothyroidism (CH) is one of the major achievements in preventive medicine. Most neonates born with CH have a normal appearance and no detectable physical signs. Blood spot thyroid stimulating hormone (TSH), thyroxine (T4), or both can be used for CH screening. The latter is more sensitive but not cost-effective, so screening by TSH or T4 is used in various programs worldwide. TSH screening is more specific in the diagnosis of CH. T4 screening is more sensitive in detecting newborns with rare hypothalamic-pituitary-hypothyroidism, but it’s less specific with a high frequency of false positives especially in low birth weight and premature infants. NBS alone is not sufficient to prevent adverse outcomes from CH in a pediatric population. In addition to NBS, the management of CH requires timely confirmation of the diagnosis and accurate interpretation of thyroid function testing, effective treatment, and consistent follow-up. Doctors need to consider hypothyroidism in the face of clinical symptoms, even if NBS thyroid test results are normal. When clinical symptoms and signs of hypothyroidism appear (such as large posterior fontanelles, large tongue, umbilical hernia, prolonged jaundice, constipation, lethargy, and/or hypothermia), measurement of serum thyroid hormone and free thyroxine is indicated, regardless of NBS results. So all these babies should be treated as having CH during the first 3 years of life, taking into account the risk of mental retardation. Re-evaluation after 3 years is required in such patients.

A Rare Case of Congenital Hypothyroidism

Congenital Hypothyroidism (CH) is a common preventable cause of mental retardation. The incidence of CH is 1 in 2500 to 1 in 3000 newborns. Most common causes are thyroid dysgenesis and dyshormonogenesis. Some disorder like maternal autoantibodies, maternal intake of anti thyroid medication, iodine deficiency or iodine excess can result in transient CH. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. In this case report, A 3 day old baby was admitted to SNCU with chief complain of yellowish discoloration upto abdomen and respiratory distress. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born.

Embryonic development of the skull in a parthenogenetic lizard, the mourning gecko (Lepidodactylus lugubris).

Gekkotans are one of the major clades of squamate reptiles. As one of the earliest-diverging lineages, they are crucial in studying deep-level squamate phylogeny and evolution. Developmental studies can shed light on the origin of many important morphological characters, yet our knowledge of cranial development in gekkotans is very incomplete. Here, we describe the embryonic development of the skull in a parthenogenetic gekkonid, the mourning gecko (Lepidodactylus lugubris), studied using non-acidic double staining and histological sectioning. Our analysis indicates that the pterygoid is the first ossifying bone in the skull, as in almost all other studied squamates, followed closely by the surangular and prearticular. The next to appear are the dentary, frontal, parietal and squamosal. The tooth-bearing upper jaw bones, the premaxilla and maxilla, develop relatively late. In contrast to previous reports, the premaxilla starts ossifying from two distinct centres, reminiscent of the condition observed in diplodactylids and eublepharids. Only a single ossification centre of the postorbitofrontal is observed. Some of the endochondral bones of the braincase (prootic, opisthotic, supraoccipital) and the dermal parasphenoid are the last bones to appear. The skull roof is relatively poorly ossified near the time of hatching, with a large frontoparietal fontanelle still present. Many bones begin ossifying relatively later in L. lugubris than in the phyllodactylid Tarentola annularis, which suggests that its ossification sequence is heterochronic with respect to T. annularis.

Congenital Hypothyroidism: Screening and Management.

Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis by newborn screening (NBS) leading to early and adequate treatment results in grossly normal neurocognitive outcomes in adulthood. However, NBS for hypothyroidism is not yet established in all countries globally. Seventy percent of neonates worldwide do not undergo NBS.The initial treatment of CH is levothyroxine, 10 to 15 mcg/kg daily. The goals of treatment are to maintain consistent euthyroidism with normal thyroid-stimulating hormone and free thyroxine in the upper half of the age-specific reference range during the first 3 years of life. Controversy remains regarding detection of thyroid dysfunction and optimal management of special populations, including preterm or low-birth weight infants and infants with transient or mild CH, trisomy 21, or central hypothyroidism.Newborn screening alone is not sufficient to prevent adverse outcomes from CH in a pediatric population. In addition to NBS, the management of CH requires timely confirmation of the diagnosis, accurate interpretation of thyroid function testing, effective treatment, and consistent follow-up. Physicians need to consider hypothyroidism in the face of clinical symptoms, even if NBS thyroid test results are normal. When clinical symptoms and signs of hypothyroidism are present (such as large posterior fontanelle, large tongue, umbilical hernia, prolonged jaundice, constipation, lethargy, and/or hypothermia), measurement of serum thyroid-stimulating hormone and free thyroxine is indicated, regardless of NBS results.

Congenital Hypothyroidism: Screening and Management.

Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Newborn screening (NBS) for CH should be performed in all infants. Prompt diagnosis by NBS leading to early and adequate treatment results in grossly normal neurocognitive outcomes in adulthood. However, NBS for hypothyroidism is not yet practiced in all countries globally. Seventy percent of neonates worldwide do not undergo NBS. The recommended initial treatment of CH is levothyroxine, 10 to 15 mcg/kg daily. The goals of treatment are to maintain consistent euthyroidism with normal thyroid-stimulating hormone and with free thyroxine in the upper half of the age-specific reference range during the first 3 years of life. Controversy remains regarding the detection of thyroid dysfunction and optimal management of special populations, including preterm or low-birth-weight infants and infants with transient or mild CH, trisomy 21, or central hypothyroidism. NBS alone is not sufficient to prevent adverse outcomes from CH in a pediatric population. In addition to NBS, the management of CH requires timely confirmation of the diagnosis, accurate interpretation of thyroid function testing, effective treatment, and consistent follow-up. Physicians need to consider hypothyroidism in the face of clinical symptoms, even if NBS thyroid test results are normal. When clinical symptoms and signs of hypothyroidism are present (such as large posterior fontanelle, large tongue, umbilical hernia, prolonged jaundice, constipation, lethargy, and/or hypothermia), measurement of serum thyroid-stimulating hormone and free thyroxine is indicated, regardless of NBS results.

Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

Case Report: Hydranencephaly in a female newborn with congenital cytomegalovirus infection

Background: Hydranencephaly is a congenital abnormality of the central nervous system characterized by massive hemispheric necrosis and ventricular dilatation with most of the cerebral hemispheres being replaced by membranous sacs filled with cerebrospinal fluid (CSF). Cytomegalovirus (CMV) infection can be one of the causes of hydranencephaly. The choice of therapy for hydranencephaly is a challenge because of poor prognosis, but now neural stem cell (NSC) transplantation may give new hope. Case report: We report a case of a female newborn born at term by cesarean section from a gravida 5, para 3, abortus 1 (G5P3A1) mother with suspected hydrocephalus. Head circumference was 35 cm at birth. The baby was born crying immediately, looked active, and did not appear cyanotic, but on the second day, the baby looked less active, moaned, showed acral cyanosis, and had a large fontanelle that was dilated and soft. Signs of hydrocephalus such as Macewen’s sign, setting sun phenomenon, and transillumination were found to be positive. Echocardiographic examination showed floppy interatrial septum and mild mitral regurgitation. Non-contrast computerized tomography (CT) scan of the head showed hydranencephaly. The toxoplasmosis, rubella, CMV, and herpes simplex virus (TORCH) screening showed positive anti-CMV immunoglobulin G (IgG). The baby underwent a ventriculoperitoneal (VP) shunt procedure with a head circumference of 36 cm before surgery. VP shunt was performed with an opening pressure of 15 cmH2O. Conclusions: After the VP shunt procedure, the baby's general condition improved with the head circumference within normal limits. The baby was discharged from the hospital after 16 days of treatment.

Case Report: Hydranencephaly in a female newborn with congenital cytomegalovirus infection

Background: Hydranencephaly is a congenital abnormality of the central nervous system characterized by massive hemispheric necrosis and ventricular dilatation with most of the cerebral hemispheres being replaced by membranous sacs filled with cerebrospinal fluid (CSF). Cytomegalovirus (CMV) infection can be one of the causes of hydranencephaly. The choice of therapy for hydranencephaly is a challenge because of poor prognosis, but now neural stem cell (NSC) transplantation may give new hope. Case report: We report a case of a female newborn born at term by cesarean section from a gravida 5, para 3, abortus 1 (G5P3A1) mother with suspected hydrocephalus. Head circumference was 35 cm at birth. The baby was born crying immediately, looked active, and did not appear cyanotic, but on the second day, the baby looked less active, moaned, showed acral cyanosis, and had a large fontanelle that was dilated and soft. Signs of hydrocephalus such as Macewen’s sign, setting sun phenomenon, and transillumination were found to be positive. Echocardiographic examination showed floppy interatrial septum and mild mitral regurgitation. Non-contrast computerized tomography (CT) scan of the head showed hydranencephaly. The toxoplasmosis, rubella, CMV, and herpes simplex virus (TORCH) screening showed positive anti-CMV immunoglobulin G (IgG). The baby underwent a ventriculoperitoneal (VP) shunt procedure with a head circumference of 36 cm before surgery. VP shunt was performed with an opening pressure of 15 cmH2O. Conclusions: After the VP shunt procedure, the baby's general condition improved with the head circumference within normal limits. The baby was discharged from the hospital after 16 days of treatment.

Tuticaj telesne težine na razvoj sekundarnih centara osifikacije i termina zatvaranja velike fontanele kod odojčadi

Introduction: during the infant development, the organ growth is influenced by genetic factors, diet, hormones and many neuropeptides. The secondary ossification center in the hip joint begins to form around the 4th month of life. Primary dentition begins at the age of 5-6 months with the emergence of the central incisor in the maxilla. At birth, 6 fontanelles are present between the plate bones of the cranium. The largest is the anterior or large fontanelle. Objective of our research is to analyze the development of the secondary ossification center in the femoral head in relation to dentition and closure of the anterior fontanelle closure as well as influence of childrens' birth weight and current weight on these processes. Methodology: The study included 284 infants, male and female, aged 3 to 8 months. Clinical examination of the musculoskeletal system, anthropomentric measurements and ultrasonographic findings of the hip joint were performed at the Pediatric Clinic of the Clinical Hospital Center Pristina in Gracanica. Results: The development of secondary ossification centre correlated with child's age, dentition, anterior fontanelle closure, birth weight and delivery method, as well as actual body weight. Anterior fontanelle size was inversely related to age, body weight and secondary ossification. Conclusions: According to regression analysis, body weight is the only factor that has a direct and independent impact on the onset and progression of ossification process. Every additional kilogram of a child's body weight accelerates secondary ossification by 1.3-3.77 times.

A Floppy Infant with Facial Dysmorphism.

A Floppy Infant with Facial Dysmorphism.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

BackgroundMusculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic...

Clinical and Biological Characteristics of Congenital Hypothyroidism: A Family Case Study

Hypothyroidism is the condition of thyroid hormone deficiency. It can be primary or acquired. Primary hypothyroidism can be congenital or late onset. The symptoms of congenital hypothyroidism may go unnoticed in newborns if undiagnosed. Untreated, hypothyroidism can lead to poor mental and intellectual development in children. Hypothyroidism’s clinical manifestations are often subtle or not present at birth. Common symptoms include decreased activity and increased sleep, feeding difficulty, and constipation. On examination, common signs include myxoedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Levothyroxine is the treatment of choice. In general, the prognosis is excellent when this condition is detected by screening and started on treatment early.

Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

BackgroundA case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future diagnosis and treatment.Case presentationWe analyzed and summarized the clinical data and genetic test results from a patient with IGHD admitted in March 2019 to the Department of Pediatrics Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology. We described the results from a 1-year-9-months old female, whose chief complaint was “growth retardation for more than one year”. Her birth length was 49.0 cm, and her birth weight was 3.05 kg. Suboptimal intake (breastfeeding) jaundice lasted for approximately two months following birth. When evaluated at the age of 1-year-9-months old, the patient’s height was 61.0 cm (− 7.24 SD), and her weight was 6.4 kg (− 1.50 SD). The patient’s physical characteristics included yellowish hair, large and unclosed anterior fontanelles, raised forehead, and a low and flat nose. The major abnormalities observed from the auxiliary examinations included low GH (< 0.05 μg/l), low IGF-1 (16.99 μg/l), and elevated TSH (6.97 mIU/l). Genetic testing revealed two heterozygous variants: a splicing mutation (NG_011676.1(NM_022560.4): c.10 + 1G>T, inherited from her mother) in intron 1 of the GH1 gene and a deletion that encompassed the same gene (chr17: 61973811–61996255, inherited from her father). After hormone replacement therapy with L-thyroxine and recombinant human GH (rhGH), the patient’s thyroid function returned to normal, and her serum IGF-1 level significantly improved, which resulted in an accelerated increase in height.ConclusionThis study described a case of IGHD caused by novel compound heterozygous mutations in the GH1 gene. This study suggested that closer attention should be directed to genetic testing and diagnosis based on clinical characteristics to avoid misdiagnosis.

Influence of unfused cranial bones on magnetoencephalography signals in human infants

ObjectiveTo clarify the effects of unfused cranial bones on magnetoencephalography (MEG) signals during early development. MethodsIn a simulation study, we compared the MEG signals over a spherical head model with a circular hole mimicking the anterior fontanel to those over the same head model without the fontanel for different head and fontanel sizes with varying skull thickness and conductivity. ResultsThe fontanel had small effects according to three indices. The sum of differences in signal over a sensor array due to a fontanel, for example, was < 6% of the sum without the fontanel. However, the fontanel effects were extensive for dipole sources deep in the brain or outside the fontanel for larger fontanels. The effects were comparable in magnitude for tangential and radial sources. Skull thickness significantly increased the effect, while skull conductivity had minor effects. ConclusionMEG signal is weakly affected by a fontanel. However, the effects can be extensive and significant for radial sources, thicker skull and large fontanels. The fontanel effects can be intuitively explained by the concept of secondary sources at the fontanel wall. SignificanceThe minor influence of unfused cranial bones simplifies MEG analysis, but it should be considered for quantitative analysis.

Синдром Апера (Apert): літературна довідка та власний клінічний випадок

Acrocephalosyndactyly (ACS) is a group of multiple malformations, the main clinical manifestations of which are acrocephaly and syndactyly. The most common forms are Apert (type I), Pfeiffer (type V), Setra–Hotzen (type II) syndromes. Apert syndrome is the most explored and common form of all types of ACS and Apert syndrome is estimated to occur in 1 in: 100 000 newborns. The syndrome is inherited in an autosomal dominant manner. If the gene is carried by one of the parents, the risk of having a child with Apert syndrome is 50%. The syndrome genome (FGFR2) is located on the long arm of chromosome 10 at locus 10q26. Apert syndrome occurs due to mutations at this locus, but the children karyotype is not changed. The pathognomonic clinical signs of Apert syndrome are craniofacial dysostosis and symmetrical syndactyly of the hands and feet. Acrocephaly («tower skull») — is a consequence of early synostosis of some sutures of the skull. Orbital hypertelorism and exophthalmos are referred to typical facial changes. Among other abnormalities there are heart and vascular defects (25%), cleft palate, malformations of the gastrointestinal tract and kidneys. The diagnosis is made on the basis of clinical symptoms. No treatment has been developed. Life expectancy is short. Purpose — to present a clinical case of a newborn with Apert syndrome. Clinical case. Apert syndrome was suspected prenatally, confirmed after birth. The newborn girl had the characteristic signs of the above-described pathology: «tower head», hypertelorism, saddle bridge of the nose, closed large fontanelle, phalanges of the first finger were wide, the proximal phalanx was triangular, complete cutaneous syndactyly of the II–IV fingers was observed symmetrical on both upper extremities; on the lower extremities — thickening of the proximal phalanges of the big toes, complete cutaneous syndactyly of the II–IV toes. Conclusions. The article describes a clinical case of a child with Apert syndrome. Prenatal diagnosis takes one of the leading places in confirming genetic abnormalities, determining the prognosis for life. Genetic counseling for parents is necessary and important at all stages of pregnancy planning. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Apert syndrome, children, prenatal diagnosis.

SAT-059 Congenital Craniopharyngioma: A Rare and Challenging Disease

Introduction: Congenital central nervous system tumors are seldomly seen, with just few reported cases of neonatal craniopharyngioma (NCP). Albeit being a benign tumor arising from epithelial vestiges along the adenohypophysis migration, NCP may have an aggressive behavior due to its location.Case Report: We report a two-month-old female infant referred to the Pediatric ward due to recurrent sepsis episodes, uncontrollable crying, large fontanelle and signs of adrenal insufficiency. Laboratory evaluation showed low serum cortisol 0.11 μg/dL(REF: 6.2-19.4 μg/dL), ACTH 6.66 pg/mL(REF: 7.2-63.3pg/mL) and Na 133 mEq/L(REF: 136-145mEq/L), normal Free T4 1.01 ng/dL(REF: 0.93-1.7 ng/dL) and a slightly elevated prolactin 59.43 ng/mL(REF: 4.79-23.3ng/mL). A transfontanelar ultrasound demonstrated a cystic and calcified sellar/suprasellar tumor. Encephalus Magnetic Resonance Imaging described a 36x42x33 mm multicystic sellar/suprasellar mass extending to the middle line and occupying all sellar space, leading to a deformed and compressed third ventricle, and displacing the mesencephalus, the cerebral pedunculus and the optic chiasm. Imaging evaluation suggested a craniopharyngioma. She started hydrocortisone therapy due to hypercortisolism and was submitted to transsphenoidal surgery, but just a partial resection of the tumor was possible. She needed levothyroxine and desmopressin replacement after surgery. On the 10th post-operative day she died due to infectious complications. The histological analysis of the tumor diagnosed an adamantinomatous-type grade I craniopharyngioma.Comments: Central nervous system tumors developing in the first 60 days of life are considered congenital. Besides being a rare condition, NCP are challenging and life-threatening. Although for some groups the complete resection of the tumor is considered the gold standard approach to those patients, sometimes it cannot be performed due to limitations intrinsic to the tumor biology and due to the patient’s age, worsening the prognosis of the infant. Multihormonal deficits and shortened survival of this patient were consequences of the tumor characteristics, delayed diagnosis of craniopharyngioma and the poor results during and after the surgical intervention.

Vitamin D supplementation in pregnancy, lactation and infancy: why is it fundamental?

Vitamin D is mainly made in the skin following exposure to sunlight but can also be taken in via specific natural or fortified food sources. It is essential for intestinal calcium absorption and thereby bone mineralisation. Deficiency in vitamin D, or low dietary calcium intake, therefore results in defective bone mineralisation causing osteomalacia in children and adults and rickets in growing children. The leading causes of rickets and osteomalacia worldwide are solar vitamin D deficiency and/or nutritional calcium deficiency. Long-standing severe vitamin D deficiency can lead to craniotabes, large fontanelle, leg bowing, stunted growth and obstructed labour. The deficient state in the infant is almost always acquired from the mother. Therefore, robust antenatal and infant vitamin D supplementation programmes are obligatory to prevent complications. Conversely, lack of programme monitoring and conflicting recommendations can lead to confusion among healthcare professionals and poor uptake in the population. Factors shown to improve adherence to supplementation include universal supplementation of breast- and bottle-fed infants, monitoring supplementation at antenatal/postnatal healthcare visits, providing information to families at discharge from the neonatal unit and financial family support.

Kleeblattsch\xe4del skull presenting in concert with Pfeiffer syndrome

BackgroundKleeblattschädel skull, also known as the cloverleaf is a complex synostosis which presents with an enlarged tri-lobar skull resulting temporal bulging and a flat posterior skull, a rare find in the population. This pansynostosis is associated with other congenital syndromes which include Crouzon, Pfeifer, and Carpenter’s. The genetic disorder Pfeiffer syndrome results from skull bones’ premature fusion characterized by deformities of the hand and feet. The author reports a 10-month-old girl who presented with a tri-lobar skull and wide toes which is a significant finding of Pfeiffer syndrome.Case presentationA 10-month-old girl presents with congenital obstructive hydrocephalus due to cloverleaf skull with horizontally enlarged head and large fontanelles. The child also had mid-facial hypoplasia and pre-axial bilateral lower limb polydactyly. Wide toes were also observed, an indicator of Pfeiffer’s Syndrome. Computed tomography (CAT) scans grossly abnormal craniofacial appearances, with premature closure of the sagittal suture giving a cloverleaf skull appearance. There was also a significant thinning of the brain parenchyma.ConclusionPremature closure of sutures leads to a forced growth in a plane perpendicular to the closed suture. Cloverleaf deformity can present with multiple syndromes such as Pfeiffer’s. This leads to gross alteration of the skull with potential underlying morbidity.

Congenital Hypothyroidism from Birth to One Year of Age Follow up: A Longitudinal

Background and objectives: Congenital hypothyroidism is the commonest neonatal endocrine disorder and most common treatable causes of mental retardation. The study aimed to find out the important clinical presentations of congenital hypothyroidism at onset of diagnosis and their response to treatment over first year of life. Methods: A longitudinal study conducted in Rapareen Paediatric Hospital, from April, 1st 2015 to May, 1st 2018. The study enrolled 38 neonates and infants with congenital hypothyroidism who divided in two groups, according to the age of presentation. Those presented in the first four weeks of life, and those presented after four weeks of age. Clinical features documented and tests done for all cases in the form of T4 and thyroid stimulating hormone at presentation, and repeated each month for three months, then every three months for one year. Thyroxin started in standard doses of 10–15 mcg/kg/day once a day and titrated to keep T4 level in the normal upper range. Assessment of all growth parameters development was done at each visit. Results: Mean age of presentation was 27(±19) days.Clinical presentations were, large fontanel in 33(86.84%), feeding difficulties 32(84.21%), and large head 17(44.73%),prolonged neonatal jaundice 29(76.31%). All growth parameters showed improvement after three to six months of treatment in both groups, but there was a significant delay in social and language development in-group two. Conclusion: Early diagnosis and treatment is crucial, those received treatment in early life showed near normal growth and development.

Anesthetic management during a cesarean section in a patient with cleidocranial dysplasia: a case report

BackgroundCleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures. It causes facial and oral abnormalities, resulting in difficult airway management and neuraxial anesthesia.Case presentationThe patient was a 24-year-old primipara (height 138 cm, weight 42 kg) with a hypoplastic right clavicle, patent fontanelles, dental malalignment, and a high palate. She was diagnosed with cleidocranial dysplasia at birth, although gene examination has not been performed. The fetus was confirmed to have short limbs and large fontanelles during an examination performed at 28 weeks gestation, suspected to have cleidocranial dysplasia. The mother was scheduled for a cesarean section at 37 weeks and 1 day due to cephalopelvic disproportion. Preoperative radiography and magnetic resonance imaging revealed no vertebral and spinal abnormalities, which allowed combined spinal-epidural analgesia (CSEA) to be performed. The surgery was safely concluded under CSEA with no intraoperative respiratory or circulatory problems.ConclusionsPatients with cleidocranial dysplasia exhibit facial, oral abnormalities, and often vertebral abnormalities. Imaging assessments before neuraxial anesthesia and careful preparation for airway management are required.