Lethal Congenital Muscular Dystrophy with Arthrogryposis Multiplex Congenita: Three New Cases and Review of the Literature

Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops. The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy. Fatal CMD seems to be distinct from CMD with survival after birth and is probably autosomal recessively inherited.     

Pathologic features in two siblings with the Pena-Shokeir I syndrome

Two siblings whose clinical and pathologic features were consistent with the Syndrome of camptodactyly, multiple ankyloses and pulmonary hypoplasia originally described by Pena and Shokeir were examined at autopsy. Additional features were intrauterine growth retardation, immaturity of the central nervous system (CNS) and atrophy of skeletal muscles. Our data suggest that CNS damage may cause the complicated phenotypic abnormalities of the syndrome.Abbreviations CNS central nervous system - IUGR intrauterine growth retardation - COFS cerebro-oculo-facio-skeletal     

Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented.     

Arthrogryposis multiplex congenita, Pena-Shokeir phenotype, with gastroschisis and agenesis of the leg

A young mother had a stillborn infant at 33 weeks' gestation, the pregnancy complicated by polyhydramnios. The parents were unrelated, healthy, and both had a normal karyotype. The infant had multiple malformations such as ankylosis, facial anomalies, and pulmonary hypoplasia. A severe gastroschisis and agenesis of the right leg were also present. The neuropathologic findings were those of marked atrophy of anterior horn motor cells in the spinal cord and neurogenic muscle atrophy. This is a case of Pena-Shokeir syndrome with two additional features: gastroschisis and agenesis of the right leg. This syndrome represents a lethal form of arthrogryposis multiplex congenita, and the essential neuropathologic findings are marked reduction in the number of spinal motor cells and neurogenic muscle atrophy.     

Turner's Syndrome with Agenesis of the Corpus Callosum, Hashimoto's Thyroiditis and Horseshoe Kidney

We present a 14-year-old girl with Turner's syndrome, agenesis of the corpus callosum, Hashimoto's thyroiditis and horseshoe kidney. She was admitted to our hospital because of short stature. She had some of the somatic stigmata of Turner's syndrome, was slightly mentally retarded, but had no neurological abnormalities. Chromosome study showed a 45, x karyotype. Her thyroid function was normal, but both the antithyroglobulin and antimicrosomal antibody titers were elevated, suggesting lymphocytic chronic thyroiditis. An intravenous pyelogram and an abdominal CT scan showed a horseshoe kidney. CT scan of the brain showed agenesis of the corpus callosum. As far as we are aware, this is the first report of Turner's syndrome with agenesis of the corpus callosum, Hashimoto's thyroiditis and horseshoe kidney.     

Prenatal Closure of Abdominal Defect in Gastroschisis: Case Report and Review of the Literature

With the routine use of fetal imaging studies during prenatal care, increased numbers of unusual intrauterine events are now detected. Prenatal closure of the abdominal defect in gastroschisis is an example. We report a 34 5/7–week stillborn who had prenatal closure of a ventral abdominal wall defect, which had been seen earlier on fetal ultrasound examination. Two ultrasound examinations performed at 15 1/7 weeks and 19 1/7 weeks showed a mass of exteriorized bowel that herniated through the abdominal defect, just to the right of the umbilical cord. At 30 1/7 weeks, no exteriorized bowel was seen, but thickened and dilated intraabdominal bowel was identified. No abdominal defect or exteriorized bowel was found at autopsy. There was a severely dilated proximal jejunum with the absence of the rest of the small intestine and the right side of the colon. The remaining left side of the colon was small and blind proximally. Six similar isolated examples have been reported since 1991. Prenatal closure of an abdominal defect was associated with long-segment atresia of the midintestine in each case. We believe that the spontaneous closure of this abdominal defect was associated with atresia and resorption of exteriorized bowel. It is likely some of the cases of long-segment atresia may in fact be associated with closed gastroschisis. Received December 18, 2000; accepted April 25, 2001.     

Isolated hypoplasia of abdominal wall muscles associated with fetal ascites

We report the case of an infant born after parvovirus B19‐induced fetal hydrops, who presented at birth with bilateral abdominal wall laxity, which was more evident on the flanks. Imaging exams revealed congenital hypoplasia of oblique abdominal muscles not associated with other anatomical abnormalities except for small liver calcifications. We review the medical literature and identify similar cases associated with fetal ascites. We propose that isolated hypoplasia of abdominal wall muscles can be associated with fetal ascites from various causes, and represents a separate condition from prune belly syndrome.     

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus

To correlate presence or absence of a 7q11 microdeletion with the clinical picture of the Williams-Beuren syndrome (WBS), we investigated 29 patients with a clinical diagnosis of WBS or WBS-like features, aged 1–30 years, using molecular analysis and/or fluorescent in situ hybridization (FISH). Deletions at 7q11 were found in 75% of the patients (22 out of 29). Nine deletions occurred on a paternal, and ten on a maternal chromosome; three deletions were demonstrated by FISH only, and parental origin could thus not be determined. All deletion patients aged between 2 years and puberty displayed a distinct pattern of facial features (including periorbital fullness, short nose with flat bridge, wide mouth, and full lips and cheeks), the characteristic outgoing social behaviour, as well as moderate growth and mental retardation. Twothirds (15 out of 22) had a cardiovascular malformation, but only one third (7 of 22) had supravalvular aortic stenosis (SVAS). A stellate iris pattern was also present in one-third of the patients only. In the four adult patients with 7q11 deletions, there was prominence of the lower lip whereas fullness of cheeks and periorbital tissue was not seen.Conclusion This study confirms that WBS has a unique clinical picture which can be diagnosed clinically, but also shows that the relative frequency of individual features may have been overemphasized in the past, and that a minority of patients may exist who are clinically indistinguishable from WBS but who appear to have no deletion at 7q11.     

Marshall-Smith Syndrome: Report of a Case and Review of the Literature

ABSTRACT Marshall-Smith syndrome is a rare disorder characterized by accelerated skeletal maturation, bullet-shaped proximal and middle phalanges, dysmorphic facial features, and failure to thrive, and is often associated with mental retardation of variable degree. We describe an 8-month-old female with this syndrome, who has a hypoplastic corpus callosum and extreme upper airway obstruction requiring tracheostomy. Also, we review the previous reports of this syndrome since 1971 (Marshall et al., 1971).     

Cryptophthalmia Syndrome with Laryngeal Atresia and Bilateral Renal Agenesis: A Case Report and a Review of the Literature

Abstract An autopsy case of the unilateral cryptophthalmia syndrome was presented, showing the lack of the eyelids formation on the right and the facial skin being continuous over the right eye. Potter's face, partial cutaneous syndactyly, clitorial hypertrophy, bilateral renal agenesis and absence of uterus were associated, and further laryngeal atresia was noted, leaving a small posterior opening and allowing a survival of only 10 min at birth. Histologic analysis of the right eye revealed that the cyst in the anterior segment was formed by the destruction of the lens itself. The pathogenesis of cryptophthalmia and laryngeal atresia was discussed.     

Beckwith-Wiedemann Syndrome with Unusual Hepatic and Pancreatic Features: A Case Expanding the Phenotype

We describe an infant with Beckwith-Wiedemann syndrome (BWS) who had hepatic and pancreatic findings not previously described in BWS. These were biliary dysgenesis and enlargement and cystic dysplasia of the pancreas. The biliary dysgenesis was characterized by proliferation of abnormally shaped ducts in the portal tracts. Massive enlargement and cystic dysplasia of the pancreas was associated with ductular proliferation, virtual absence of normal exocrine tissue, and an increase in endocrine tissue.     

Bilateral Ulnar Agenesis: Case Report and Review of the Literature

Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, or the Brachmann—de Lange syndrome. Fifty percent of all cases with bilateral ulnar agenesis were associated with lower limb defects and these cases, for the most part, also belonged to the aforementioned syndromes. Nonskeletal, internal organ malformations were identified in 34% of all patients. Nine patients presented with isolated bilateral ulnar agenesis. The Al-Awadi/Raas-Rothschild syndrome and the split hand/split foot deformity are heritable disorders. There was no evidence for genetic etiology in most of the other cases. Bilateral ulnar agenesis in our fetus was part of the Brachmann—de Lange syndrome with associated cardiac defect, diaphragmatic hernia, and umbilical artery agenesis.     

A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes,altered content and redox state of cytochromes,and infantile cirrhosis with hemosiderosis

A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one patient with ZS [2], contained smooth endoplasmic reticulum. No catalase was found by histochemistry or spectroscopy. Mitochondria showed normal succinate and glutamate respiration, and normal coupling of respiration to the phosphorylation potential. The cytochrome (cyt) content was diminished to one-third with an abnormally inversed redox patterns of the respiratory chain in the controlled state, cyt b being 5%, cyt c 23% reduced. The oxygen affinity of cyt a ₃ was normal. These findings exclude a defect in the nonheme iron protein region of the respiratory chain as described in ZS [2], but point to a functional abnormality of cyt b in our patient.Supported by Deutsche Forschungsgemeinschaft, SFB 51, Medizinische Moleukularbiologie und Biochemie (H.T.V., V.H., B.B.), Sci 182/1-4 (G.S.), and by the Landesamt für Forschung des Landes Nordrhein-Westfalen (H.J.B.)     

Patchplasty with expanded polytetrafluoroethylene and skinplasty for the closure of large congenital abdominal wall defects

A combined technique of patchplasty with expanded polytetrafluoroethylene (PTFE) and a special skinplasty is described for congenital abdominal wall defects where the abdominal cavity needs enlargement but skin closure is primarily possible. The patchplasty consists of suturing two half-moon-shaped, expanded PTFE leaves to the sides of the muscular abdominal wall, then approximating them under observation of intra-abdominal pressure by monitoring five parameters (urinary bladder pressure, central venous pressure, transcutaneous oxygen saturation, ventilation pressure, and mean arterial pressure). The skin is incised in a horizontal manner according to the tension lines. However, after closure, regional necrosis of the skin in the mid-portion above the incision is often observed due to lack of sufficient subcutaneous tissue at this site. Therefore, a skinplasty is done as a preventive measure, resecting this potential site of necrosis. The final appearance of the skin is an inverted T-shape. The surgical and monitoring techniques are described and illustrated. Correspondence to: A. Rokitansky     

MRI assessment of bronchial compression in absent pulmonary valve syndrome and review of the syndrome

Absent pulmonary valve syndrome (APVS) is a rare cardiac malformation with massive pulmonary insufficiency that presents with short-term and long-term respiratory problems secondary to severe bronchial compression from enlarged central and hilar pulmonary arteries. Association with chromosome 22.Q11 deletions and DiGeorge syndrome is common. This historical review illustrates the airway disease with emphasis on assessment of the bronchial compression in patients with persistent respiratory difficulties post-valvular repair. Cases that had MRI for cardiac assessment are used to illustrate the pattern of airway disease. An erratum to this article can be found at     

The Role of Platelets and ε‐Aminocaproic Acid in Arthrogryposis,Renal Dysfunction,and Cholestasis (ARC) Syndrome Associated Hemorrhage

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare disorder associated with platelet abnormalities resembling gray platelet syndrome. Affected patients have normal platelet numbers but abnormal morphology and function. Bleeding symptomatology ranges from postprocedural to spontaneous life‐threatening hemorrhage. We report a patient with ARC syndrome and compound heterozygous mutations in VPS33B (vacuolar protein sorting 33B) who presented with significant bleeding requiring numerous admissions and transfusions. She was treated with prophylactic platelet transfusions and ε‐aminocaproic acid. This was well‐tolerated and significantly decreased transfusion requirements and admissions for bleeding. Our experience provides support for consideration of prophylactic measures in these patients as well as the possibility of using prophylaxis in related disorders.     

A concurrent occurrence of cutis laxa,Dandy-Walker syndrome and immunodeficiency in a girl

We report on a 17-y-old girl with inherited cutis laxa, immunodeficiency and Dandy-Walker syndrome. Immunodeficiency manifested itself by decreased and fluctuating levels of IgG, IgA and IgM and intermittent leucopenia causing increased susceptibility to respiratory tract infections. Dandy-Walker syndrome (agenesis of the cerebellar vermis with a large posterior fossa cyst communicating with an enlarged 4th ventricle) was shown on a CT scan but with the exception of macrocrania, no typical signs or symptoms were observed at the age of 17. Loose hyperextensible skin with pendulous skinfolds as a manifestation of cutis laxa was observed from birth. Anomalies of the right pulmonary artery, abnormal branching of the left arteria subclavia (arteria lusoria) from the left aortic arch and bicuspidal aortic valve were also present.

Conclusion: The combination of the rare disorders cutis laxa, Dandy-Walker syndrome and immunodeficiency is reported here for the first time.     

直肠肛管向量测压对术后肛门括约肌功能状态评价的研究

目的　探讨向量测压对先天性直肠肛门畸形术后肛门括约肌功能状态的定性及定量评价。方法　采用连续、匀速牵拉的向量测压方法研究正常组及先天性直肠肛门畸形术后组儿童的向量测压结果及其与临床评分的相关性。结果　无肛术后患儿向量容积减小 ,非对称指数增大。临床评分与向量容积呈正相关 (收缩时R =0 .6 0 17)。优良组的收缩向量容积大于 12 9cm·(cmHg) 2 ,收缩非对称指数小于 37%。结论　无肛术后向量容积图可分为钟形 ,近似钟形及不规则形三种形态 ,据此可以定性评价肛门括约肌压力的分布及强弱。无肛术后患儿临床评分与向量容积呈正相关 ,当收缩向量容积大于 12 9cm·(cmHg) 2 ,非对称指数小于 37%时 ,提示可能获得较高的临床评分。