Bell-shaped Chest Research Articles

Non-ionizing measurement and quantification of bell-shaped chests in spinal muscular atrophy: a pilot study.

Spinal Muscular Atrophy (SMA) is manifested by deformation of the chest wall, including a bell-shaped chest. We determined the ability of a novel non-ionizing, non-volitional method to measure and quantify bell-shaped chests in SMA. A 3D depth camera and a chest x-ray (CXR) were used to capture chest images in 14 SMA patients and 28 controls. Both methods measure the distance between two points, but measurements performed by 3D analysis allow for the consideration of the curve of a surface (geodesic measurements), whereas the CXR allows solely for the determination of the shortest path between two points, with no regard for the surface (Euclidean measurements). The ratio of the upper to lower chest distances was quantified to distinguish chest shape in imaging by both the 3D depth camera and the CXR, and the ratios were compared between healthy and SMA patients. The mean 3D Euclidean ratio of distances measured by 3D imaging was 1.00 in the control group and 0.92 in the SMA group (p = 0.01), the latter indicative of a bell-shaped chest. This result repeated itself in the ratio of geodesic measurements (0.99 vs. 0.89, respectively, p = 0.03). The herein-described novel, noninvasive 3D method for measuring the upper and lower chest distances was shown to distinguish the bell-shaped chest configuration in patients with SMA from the chests of controls. This method bears several advantages over CXR and may be readily applicable in clinical settings that manage children with SMA.

КЛИНИЧЕСКИЙ СЛУЧАЙ СИНДРОМА ЧЕРЕПНО-КЛЮЧИЧНОГО ДИЗОСТОЗА: КЛИНИЧЕСКИЕ И РЕНГЕНОЛОГИЧЕСКИЕ ПРОЯВЛЕНИЯ

Objectives. Clinical case in the practice of an oral and maxillofacial surgeon: a child with cranioclavicular dysostosis. This cider was first described in 1898 by P. Marie and P. Sainton. H. Scheuthauer described the pathological manifestations of skeletal anomalies in more detail. Steithauer–Marie–Sainton syndrome, or cranioclavicular dysostosis, involves aplasia or hypoplasia of the clavicles, delayed dentition, supernumerary teeth, and other skeletal abnormalities. In this syndrome, skeletal abnormalities include clavicular aplasia, or hypoplasia, bell-shaped chest, enlarged cranial vault with a convex frontal bone, open fontanelle, brachydactyly, pelvic hypoplasia, short stature, severe abnormal development of teeth with changes in occlusion, that is, this is a fairly severe hereditary pathology . Retention and dystopia of permanent teeth are associated with the presence of one or more supernumerary teeth on the upper and lower jaws.
 Purpose. Conducting an anthropometric, dental, and x-ray examination of a child with cranioclavicular dysostosis.
 Methodology. The article presents photographs of the child, pediatric and dental examination data, plain radiography of the chest and collarbones, orthopantomography of the upper and lower jaw, and a treatment plan for cranioclavicular dysostosis. Currently, due to a problem with teething, she consulted a dentist; after an examination, the child was referred to a maxillofacial surgeon.
 Conclusions. Cranioclavical dysostosis syndrome is a complex congenital pathology, the complex rehabilitation of which should involve not only doctors of all dental specialties, but also maxillofacial surgeons, orthopedists, pediatricians, neurologists, speech therapists, and medical psychologists.

Doxycycline-resistant Scrub Typhus in a Syndromic Child

Scrub Typhus, a human febrile illness caused by Orientia tsutsugamushi, is common in Asia and infects persons those visiting the endemic areas. Scrub typhus is a zoonotic infection. It is transmitted by a trombiculid mite which introduces the bacteria by its bite. Scrub typhus is associated with maculopapular rashes and local and/or generalised lymphadenopathy.It is characterised by eschar at the site of the bite. A child with doxycycline-resistant scrub typhus is being presented here. A 10-year-old female child was bought to the hospital with complaints of fever for six days, cough for three days, loose stools for two days, and vomiting for one day duration. S1 and S2 sounds were heard while bilateral vesicular breath sounds were normal. There was no hepatosplenomegaly and Central Nervous System (CNS) examination showed no focal neurologic deficits. Investigations showed a normal leukocyte count and Differential Leucocyte Count (DLC), microcytic hypochromic anaemia, thrombocytopenia, hyponatremia, and elevated liver enzymes. Scrub Immunoglobulin M (IgM) was positive. Chest radiograph showed a bell-shaped chest with vertical straightening of ribs. The child was started on intravenous (i.v.) fluids, Doxycycline 4 mg/kg, and paracetamol. The child continued to spike fever at day 6 of Doxycycline and hence was started on Azithromycin 10 mg/kg, following which the fever subsided and the child was discharged.

Ellis van Creveld syndrome: An unusual presentation at birth

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

Prenatal Diagnosis of a Lethal Skeletal Dysplasia.

Prenatal Diagnosis of a Lethal Skeletal Dysplasia.

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature.

Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. This study aimed to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. The diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with age as a result of the relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with the ratio of chest depth to chest width being significantly above the norm. The head and neck were relatively elongated, in comparison to body height, and tucked between narrow shoulders. The head had dolichocephalic shape, while the nose was short with wide nostrils. Conclusions: Multiple anthropometric measurements, including age ranges, allowed for the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children.

The involvement of the respiratory muscular pump makes SMA children prone to frequent hospitalization and morbidity, particularly in type 1. Progressive weakness affects ribcage muscles resulting in bell-shaped chest that was never quantified. The aims of the present work were: (1) to quantify the presence of bell-shaped chest in SMA infants and children and to correlate it with the action of ribcage muscles, assessed by the contribution of pulmonary ribcage to tidal volume (ΔVRC, p); (2) to verify if and how the structure of the ribcage and ΔVRC, p change after 1-year in SMA type 2. 91 SMA children were studied in supine position during awake spontaneous breathing: 32 with type 1 (SMA1, median age: 0.8 years), 51 with type 2 (SMA2, 3.7 years), 8 with type 3 (SMA3, 5.4 years) and 20 healthy children (HC, 5.2 years). 14 SMA2 showed negative ΔVRC, p (SMA2px), index of paradoxical inspiratory inward motion. The bell-shaped chest index was defined as the ratio between the distance of the two anterior axillary lines at sternal angle and the distance between the right and left 10th costal cartilage. If this index was < < 1, it indicated bell shape, if ~1 it indicated rectangular shape, while if >> 1 an inverted triangle shape was identified. While the bell-shaped index was similar between HC (0.92) and SMA3 (0.91), it was significantly (p < 0.05) reduced in SMA2 (0.81), SMA2px (0.74) and SMA1 (0.73), being similar between the last two. There was a good correlation (Spearman's rank correlation coefficient, ρ = 0.635, p < 0.001) between ribcage geometry and ΔVRC, p. After 1 year, ΔVRC, p reduced while bell-shaped chest index did not change being significantly lower than HC. The shape of the ribcage was quantified and correlated with the action of ribcage muscles in SMA children. The impaired ribcage muscles function alters the ribcage structure. HC and SMA3 show an almost rectangular ribcage shape, whereas SMA2, SMA2px and SMA1 are characterized by bell-shaped chest. In SMA, therefore, a vicious cycle starts since infancy: the disease progressively affects ribcage muscles resulting in reduced expansion of lung and ribcage that ultimately alters ribcage shape. This puts the respiratory muscles at mechanical disadvantage.

CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.48Hypercontractile congenital muscle stiffness

Tropomyosin 3 encoded by the TPM3 gene is a member of the acting binding tropomyosin family, a component of the sarcomeric thin filaments troponin/ tropomyosin complex that is essential in muscle contraction by regulating the calcium dependent binding of the myosin head to the actin filament. Mutations in TPM3 cause a clinical and histopathological heterogeneous group of neuromuscular disorders characterized by congenital hypotonia and weakness that includes cap myopathy, congenital fiber type disproportion and nemaline myopathy. Recently, a new phenotype characterized by hypercontractile stats and stiffness was described, most probably due to mutations that increase calcium sensitivity of the troponin-tropomyosin complex, resulting in excessively sensitized excitation-contraction coupling of the contractile apparatus. This study presents the case of a one-year-old female, daughter of non-consanguineous parents, of an uneventful gestation, was born full term with Apgar 3/8 and presented generalized hypertonia and hip dysplasia from the first month of life. She had no cephalic support and was not able to sit without support because of the stiffness. Apparently, she has normal cognition. She has a short neck, hypertrophy of the cervical, paravertebral and proximal muscles of the upper limbs and a bell-shaped chest. During the neurological exam, she was able to move against gravity with all four limbs, but the strength scale evaluation was impaired due to by the stiffness. Deeper tendon reflexes, sensation and cranial nerves were normal. The first diagnosis was Schwartz Jampel syndrome; however, myotonic discharges were not detected in the electromyography exam. Computed tomography of the brain, pelvic girdle radiography, serum CK level, and mucopolysaccharidosis screen were normal. Echocardiogram showed patent foramen oval with left-right flow. Ultrasound of the hip joint showed dysplasia on the left side. Clinical, phenotypic and pathophysiological spectrum of TPM3 mutations are broader than once thought, and now joins congenital hypercontractile and stiffness phenotype.

Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.

SummaryNeonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutations that result in life-threatening hypercalcemia and metabolic bone disease. Until recently, therapy has been surgical parathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Here we present the detailed description of two unrelated patients with NSHPT due to heterozygous R185Q CASR mutations. Patient 1 was diagnosed at 11 months of age and had developmental delays, dysphagia, bell-shaped chest, and periosteal bone reactions. Patient 2 was diagnosed at 1 month of age and had failure to thrive, osteopenia, and multiple rib fractures. Cinacalcet was initiated at 13 months of age in patient 1, and at 4 months of age in patient 2. We have successfully normalized their parathyroid hormone and alkaline phosphatase levels. Despite the continuance of mild hypercalcemia (11–12 mg/dl), both patients showed no hypercalcemic symptoms. Importantly, patient 1 had improved neurodevelopment and patient 2 never experienced any developmental delays after starting cinacalcet. Neither experienced fractures after starting cinacalcet. Both have been successfully managed long-term without any significant adverse events. These cases expand the current literature of cinacalcet use in NSHPT to five successful reported cases. We propose that cinacalcet may be considered as an option for treating the severe hypercalcemia and metabolic bone disease found in infants and children with inactivating CASR disorders.Learning points NSHPT due to mutations in the CASR gene occurs with hypercalcemia and metabolic bone disease, but not always with severe critical illness in infancy.NSHPT should be considered in the differential diagnosis for a newborn with a bell-shaped chest, osteopenia, and periosteal reactions.Neurodevelopmental consequences may occur in children with hypercalcemia and may improve during treatment.Calcimimetics can be used to successfully treat the pathophysiology of NSHPT directly to control serum calcium levels.

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism—lack of effect of cinacalcet

BackgroundNSHPT is a life-threatening disorder caused by homozygous inactivating calcium-sensing receptor (CASR) mutations. In some cases, the CaSR allosteric activator, cinacalcet, may reduce serum PTH and calcium levels, but surgery is the treatment of choice. ObjectiveTo describe a case of NSHPT unresponsive to cinacalcet. Patient and ResultsA 23-day-old girl was admitted with hypercalcemia, hypotonia, bell-shaped chest and respiratory distress. The parents were first-degree cousins once removed. Serum Ca was 4.75mmol/l (N: 2.10–2.62), P: 0.83mmol/l (1.55–2.64), PTH: 1096pg/ml (9–52) and urinary Ca/Cr ratio: 0.5mg/mg. First, calcitonin was given (10IU/kg×4/day), and then 2days later, pamidronate (0.5mg/kg) for 2days. Doses of cinacalcet were given daily from day 28 of life starting at 30mg/m2 and increasing to 90mg/m2 on day 43. On day 33, 6days after pamidronate, serum Ca levels had fallen to 2.5mmol/l but, thereafter, rose to 5mmol/l despite the cinacalcet. Total parathyroidectomy was performed at day 45. Hungry bone disease after surgery required daily Ca replacement and calcitriol for 18days. At 3months, the girl was mildly hypercalcemic, with no supplementation, and at 6months, she developed hypocalcemia and has since been maintained on Ca and calcitriol. By CASR mutation analysis, the infant was homozygous and both parents heterozygous for a deletion–frameshift mutation. ConclusionThe predicted nonfunctional CaSR is consistent with lack of response to cinacalcet, but total parathyroidectomy was successful. An empiric trial of the drug and/or prompt mutation testing should help minimize the period of unnecessary pharmacotherapy.

Meckel Gruber Syndrome

Dear Sir, We are reporting a case of Meckel-Gruber Syndrome (MGS), which was identified by its typical structural anomalies and supported by a history of consanguinity. MGS, which was originally described by Meckel in 1822 and later by Gruber [1], is caused by the failure of mesodermal induction. Of the 200 cases which have been reported so far, the highest incidence has been observed in the Gujarati Indians, with 1 affected birth per 1,300 (carrier rate 1 in 18) [2]. MGS is a lethal, rare and autosomal recessive condition that commonly occurs in association with chromosome 17 [2]. This syndrome is characterised by cystic kidneys, occiptal encephalocele and post axial polydactly. Two out of the three major anomalies are sufficient for the definitive diagnosis. Many congenital anomalies are present, of which the most striking is occipital encephalocele [3]. This cconsists of extrusion of parts of the brain parenchyma that is fully covered by a dural sac. A 16–year–old primigravida presented in labour at 32 weeks of gestation with a preterm, premature rupture of membranes. A routine ultrasonography, which was done at 20 weeks, had diagnosed a foetus with several structural malformations that were suspected to be lethal. She continued the pregnancy on religious grounds. The ultrasonogram showed occipital encephalocele, polydactyly, oligohydramnios and cystic dysplasia of both kidneys. There was no history which was suggestive of an infectious origin for the malformations, but a genetic cause was suspected, as the patient had a consanguineous marriage. She delivered a 1.5 kg male foetus vaginally that had an occipital encephalocele [Table/Fig-1], a bell-shaped chest, a protuberant abdomen and post axial polydactyly of both hands and the left leg [Table/Fig-2]. On abdominal examination large masses were found, which were palpable in the lumbar regions. The baby died 2 hours after birth. A postmortem examination confirmed herniation of the brain and that both kidneys had multiple small cysts. A genetic analysis could not be done, as patient was unable to afford this investigation. The intra–natal and post–natal periods of the mother went on uneventfully. Based on the presence of classical features, a diagnosis of MGS was suggested. [Table/Fig-1]: Occipital encephalocele [Table/Fig-2]: Bell-shaped chest, protuberant abdomen and post axial polydactyly In MGS, the incidence of occipital encephalocele and post-axial polydactyly is 60% -80% and 55%-75%, respectively [2]. Renal disorders are noted in 95-100% of the cases. In this case, a foetal renal disorder like cystic dysplasia of bilateral kidneys was noted during autopsy; central nervous system defects and skeletal system malformations which included micrognathia were also present. In MGS most of the infants with are stillborns or they die hours or days after birth, the implicated cause being dysplastic kidneys that result in oligohydramnios, which ultimately leads to foetal pulmonary hypoplasia [2]. The longest known survivor lived only till 4 months [4]. The possible differential diagnoses are trisomy13, autosomal dominant polycystic kidney disease(PKD) and autosomal recessive Smith-Lemli-Opitz (SLO) syndrome [5]. In view of the high recurrence rates of MGS, subsequent pregnancies should be properly investigated by first trimester ultrasound scans, with an early recourse to a chorionic villus biopsy or amniocentesis, if it is needed. Though neonatal autopsy and genetic studies are gold standards for the diagnosis, detecting two out of the three major anomalies in the foetus, as has been mentioned above, is also sufficient for clinicians to arrive at a definitive diagnosis and for counselling the patients likewise in such hospital set-ups where neither is possible.

Index of Suspicion in the Nursery

A 39-5/7 weeks’ gestation infant boy weighing 3.670 kg is born by emergency caesarian section for significant fetal distress. The mother is a 37-year-old primigravida whose pregnancy is uneventful except for oligohydramnios due to “leaky” membranes. Liquor is scanty, meconium stained and has an offensive smell. The infant is born in poor condition, needs resuscitation, and moves to the neonatal unit ventilated and passively cooled. Apgar scores are 1, 4, and 6 at 1, 5, and 10 minutes, respectively. Cord blood pH is 6.8, and base excess is −18 mmol/L. On admission, temperature is 38.3°C, and the infant, covered with thick meconium, is hypertonic, tachycardiac, breathing with difficulty, not synchronizing with ventilator, and having a bilaterally distended chest, diminished air entry to both lung fields, muffled heart sounds, and a pre- and postductal O2 saturation difference of 10% to 15%. After two boluses of normal saline, and initiating active whole-body cooling, sedation, muscle relaxation, intravenous antibiotics, maintenance fluids, inhaled nitric oxide, and cerebral function monitoring, umbilical lines are placed. Blood tests confirm both sepsis and severe hypoxic-ischemic injury. Chest radiograph reveals abnormal bell-shaped chest, small lung volume, and bilateral pneumothoraces, more on the right hemithorax, necessitating chest drain insertion. A urinary catheter is placed. Urine output (UOP), noticed to be low during the first 36 hours, starts to recover. He is rewarmed after 72 hours of cooling, the urinary catheter is pulled out, and antibiotics are stopped by day 5. Ventilation remains difficult to wean, and pneumothoraces keep reaccumulating. Ultimately, he is extubated to air, and chest drains are removed, by day 14. Once the urinary catheter is removed, the infant’s UOP significantly drops, which is thought to be related to urinary bladder atony complicating the hypoxic-ischemic injury. Another urinary catheter is placed, and UOP starts to normalize between …

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val

De novo heterozygous mutations in HRAS cause Costello syndrome (CS), a condition with high mortality and morbidity in infancy and early childhood due to cardiac, respiratory, and muscular complications. HRAS mutations predicting p.Gly12Val, p.Gly12Asp, and p.Gly12Cys substitutions have been associated with severe, lethal, CS. We report on molecular, clinical, and pathological findings in patients with mutations predicting HRAS p.Gly12Val that were identified in our clinical molecular genetic testing service. Such mutations were identified in four patients. Remarkably, three were deletion/insertion mutations affecting coding nucleotides 35 and 36. All patients died within 6 postnatal weeks, providing further evidence that p.Gly12Val mutations predict a very poor prognosis. High birth weight, polyhydramnios (and premature birth), cardiac hypertrophy, respiratory distress, muscle weakness, and postnatal growth failure were present. Dysmorphism was subtle or non-specific, with edema, coarsened facial features, prominent forehead, depressed nasal bridge, anteverted nares, and low-set ears. Proximal upper limb shortening, a small bell-shaped chest, talipes, and fixed flexion deformities of the wrists were seen. Neonatal atrial arrhythmia, highly suggestive of CS, was also present in two patients. One patient had congenital alveolar dysplasia, and another, born after 36 weeks' gestation, bronchopulmonary dysplasia. A rapidly fatal disease course, and the difficulty of identifying subtle dysmorphism in neonates requiring intensive care, suggest that this condition remains under-recognized, and should enter the differential diagnosis for very sick infants with a range of clinical problems including cardiac hypertrophy and disordered pulmonary development. Clinical management should be informed by knowledge of the poor prognosis of this condition. © 2012 Wiley Periodicals, Inc.

675 Spinal Muscular Atrophy: Two Cases of Rapidly Progressive Disease

Introduction: Spinal muscular atrophies (SMAs) are a group of autosomal recessive disorders characterized by progressive lower motor neuron degeneration Several types have been identified, including the acute infantile form - SMA type I or Werdnig-Hoffman's disease, of which we report two cases. Case 1: 46-day old male caucasian infant, nonconsanguineous parents, no relevant family history; admitted for progressive global hypotonia and poor feeding starting at 2 weeks of life. On physical examination, the following was noted: supine “frog position”; axial hypotonia; rare spontaneous distal motor activity; bell-shaped chest; abdominal breathing with transient polypnea; flexed toes; clawed left hand; tongue fasciculation. Cardiac assessment was normal. Laboratory tests showed respiratory acidosis. Transfontanellar ultrasound revealed no abnormalities Electromyography was consistent with SMA; genetic study confirmed the diagnosis. Three months later, the infant was readmitted for severe respiratory infection and died due to respiratory failure. Case 2: 2-month old caucasian male term infant, non-consanguineous parents; referred to the Pediatric Department at 1 month old for progressive generalized hypotonia (starting at 2nd week), monotone motor activity and abnormal breathing pattern. Physical examination disclosed: supine “frog position”; clawed hands; head lag; global hypotonia in prone position; absent osteotendinous, Moro, palmar and plantar reflexes; bell-shaped chest; paradoxal breathing Electromyogram was consistent with SMA, confirmed by genetic study. Commentary: Werdnig-Hoffman's disease has a poor prognosis, death usually occuring in the first years of life No curative treatment is currently available Early diagnosis is key for both management of supportive care and genetic counseling.

Chromosome 5q subtelomeric deletion syndrome

The pure 3.5 Mb subtelomeric deletion syndrome is very rare but causes a recognizable phenotype characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature with delayed bone age due to growth hormone deficiency, and multiple minor anomalies including mildly bell-shaped chest, minor congenital heart defects, and a distinct facial gestalt. Terminal deletions including the adjacent approximately 2 Mb NSD1-locus show a compound phenotype with overlap to Sotos syndrome. Larger terminal deletions including also chromosomal bands 5q35.1 and 5q35.2 cause a more severe phenotype with normal body length, significant congenital heart defect, microcephaly, profound developmental retardation or early death due to respiratory failure. Heart defects in the latter are explained by haploinsufficiency of the NKX2.5 gene at 5q35.1. The deletion breakpoint of the 3.5 Mb subtelomeric microdeletion maps to a low copy repeat which is identical to the distal copy of two highly similar regions flanking the recurrent interstitial NSD1 microdeletion. As meiotic mispairing between these low copy repeats seem to be much more likely than a terminal aberration, these neighborhood may prevent occurrence of the subtelomeric deletion syndrome, which could explain the rareness of the latter.

The Scapuloiliac Dysostosis (Kosenow Syndrome) Spectrum – Two Additional Cases

Scapuloiliac dysostosis (also known as Kosenow syndrome, Pelvis-Shoulder Dysplasia)(MIM 169550) is a rare skeletal dysplasia which usually demonstrates extreme hypoplasia of the scapulae and ilia. The clavicles are also often affected (hypoplastic or elongated). Other radiological findings which have been reported include: lordosis of the lumbosacral spine, rounded appearance of the vertebral bodies (in infancy), rib anomalies and overconstriction of the femora. Dysmorphic features can include eye and ear abnormalities. We present two unrelated patients with Scapuloiliac Dysostosis, each of whom has additional abnormalities not previously reported in the literature. Patient #1 was an adult female with primary amenhorrea, features of Turner syndrome and a normal female karyotype. She also had partial hearing loss and hydronephrosis. In addition to her hypoplastic scapulae and ilia, she had lumbar lordosis and severe spinal dysraphism in the (lower lumbar) sacral region. The femoral heads were small with severe coxa vara. Patient #2 was a stillborn male with multiple skeletal abnormalities and malformations. Clinically, he had microphthalmia, short palpebral fissures, ambiguous genitalia and clubbed feet. Chromosomes were normal male. Radiologically, apart from the hypoplastic scapulae and ilia, he had a bell-shaped chest with thin ribs. There were radial head dislocations of the elbows, bilaterally. The proximal femoral area did not articulate with any ossified structure and the fibulae were absent. Kosenow syndrome seems to represent a spectrum of disorders including patients with only pelvic involvement to patients with multiple malformations in addition to the hypoplastic scapulae and ilia. This entity appears to exhibit genetic heterogeneity, as both autosomal dominant and recessive inheritance have been suggested.

Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine

We report a female infant, born at 30 weeks of gestation, who exhibited generalized myotonia, facial dysmorphism, blepharophimosis, and short stature at birth. These clinical findings, along with abnormal electromyogram and muscle biopsy, are consistent with Schwartz-Jampel syndrome. Our patient, diagnosed at 4 weeks of life, lacks the major skeletal anomalies, such as pectus carinatum, congenital hip dysplasia, and bowing of the long bones usually associated with this syndrome. Treatment with carbamazepine, initiated at age 7 months (corrected age of 5 months) has produced marked and continued resolution of myotonia, lessened malformation of her bell-shaped chest, and developmental progress. We suggest that the relaxation of myotonia due to early diagnosis and treatment may prevent development of the classic skeletal dysplasia of Schwartz-Jampel syndrome.

Trisomy 21 in newborn infants: chest radiographic diagnosis.

Chest radiographs of 30 infants with trisomy 21 and 881 unaffected infants were evaluated for the following findings common in trisomy 21: multiple manubrial ossification centers, 11 rib pairs, and a bell-shaped chest. Radiographs were obtained in the first 48 hours of life. Of the 881 unaffected infants, 85 (9.6%) exhibited multiple manubrial ossification centers; 46 (5.2%), 11 rib pairs; and 208 (23.6%), bell-shaped chest. Of the 30 infants with trisomy 21, 24 (80%) exhibited multiple manubrial ossification centers; ten (33%), 11 rib pairs; and 24 (80%), bell-shaped chest. The probability of trisomy 21 in routinely radiographed newborn infants is 0.05% when none of the three findings is present, 1.6% with multiple manubrial ossification centers alone, 0.2% with 11 rib pairs alone, and 0.7% with bell-shaped chest alone. The probability of trisomy 21 increases in patients with two findings and reaches 58.4% in patients with all three findings.

Clinicopathological studies on pulmonary hypoplasia in very low birth weight infants.

Seven VLBW infants with pulmonary hypoplasia (P.H.) were studied retrospectively and their necropsied lungs were analyzed morphologically and histometrically in an attempt to establish the clinical and pathological criteria of P.H. Clinically they had various features as follows; 1) causes with oligohydramnios due to amniotic fluid leakage, 2) bell-shaped chest and/or small lung radiographically, 3) severe respiratory distress immediately after birth, 4) frequent complications with air leaks, lethal within several hours after birth. Pathologically they showed a series of changes; 1) remarkably decreased LW: BW ratios, less than 0.015, 2) decreased number of alveoli per alveolar duct, less than 3 or 4 alveoli/duct compared with 6.5 of normal controls at 28 weeks' gestation, 3) immature duct system and increased interstitium which suggested delay in growth and structural maturation of the lungs. It is suggested that the tendency to develop pulmonary air leaks is not only due to high pressure ventilation but also to histological immaturity of the lungs.

The campomelic syndrome: Review, report of 17 cases, and follow‐up on the currently 17‐year‐old boy first reported by Maroteaux et al in 1971

We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The bell-shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo-bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS-based hypotonia contribute to the respiratory problem. Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, renal hypoplasia, and rarely renal cysts.