Lethal pena-shokeir 1 syndrome in three male siblings

Summary A consanguineous family with no living children and three male siblings with Pena-Shokeir 1 syndrome is described. Two children died antepartum and the third shortly after delivery. The importance of early prenatal diagnosis, appropriate counseling and thorough evaluation of the neuromuscular system is discussed.     

显性遗传性感音神经性聋24家系调查报告

文中对24个显性遗传性感音神经性聋家系进行了调查.24个家族共有聋人156人,对其中50人作了纯音测听和声导抗测试,对10名幼儿作了听性脑干反应测试.常染色体显性遗传性聋表现为连续3代以上相传,子代两性均有发病,听力测试为双耳感音神经性聋.应劝阻有遗传性聋者间通婚.对迟发型常染色体显性遗传性聋家族中年幼者应注意听力监测,以便早期发现听觉障碍.早期进行干预.     

血友病流行病学调查研究

按全国血友病协作组设计方案,对黑龙江省宾县经建等7个乡203938人口进行了血友病患病率调查。调查结果表明,患病率为3.43/10万,标化率为3.42/10万;男性患病率为6.69/10万、标化率为6.25/10万。病例均系男性,临床诊断为甲型。本次还调查了血友病伴随色盲存在的状况,调查结果表明,血友病与色盲两个基因是处在染色体上的两个不同位点。     

Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex

The two patients in a family having the clinical and electrodiagnostic features of hereditary motor and sensory neuropathy (HMSN) are described. The main histological features of sural nerve were segmental demyelination and remyelination with moderate to marked loss of myelinated fibers, and myelin folding complex along all of the large and small myelinated fibers. These features appeared morphologically similar to those observed in HMSN with excessive myelin outfolding, or globular neuropathy. Southern blot analysis suggests that there were neither duplication nor deletion of the peripheral myelin protein-22 gene in the patients. The presented two patients may be a rare form of dominantly inherited HMSN with myelin folding complex.Department of Neurology National Okinawa HospitalSupported by grant from the National Center for Nervous, Mental and Muscular disorders of the Ministry of Health and welfare, Japan     

Hydrocephalus,skeletal anomalies,and mental disturbances in a mother and three daughters: A new syndrome

We report on a family in which a mother and her 3 daughters have delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, skeletal anomalies consisting of brachydactyly, and Sprengel anomaly. Biochemical and cytogenetic analyses were normal on all 4 patients. The pattern of inheritance, clinical manifestations, and variability of expression suggest that this is a new hydrocephalus syndrome possibly transmitted as an X-linked dominant trait. © 1995 Wiley-Liss, Inc.     

X-linked laterality sequence in a family with carrier manifestations

X-linked laterality sequence (XLLS) consists of situs inversus, complex cardiac defects, and alterations in the development of the spleen. We describe a family in which two male cousins had XLLS with caudal manifestations. In our family, the obligate carrier females had uterine septum and hypertelorism, which may be gene carrier manifestations. © 1994 Wiley-Liss, Inc.     

A CASE OF FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME) WITH SOME NEW ASPECTS

Abstract Beganović, N. and Lommcn, E. J. P. (Paediatric Department, St. Josephziekenhuis, Eindhoven, the Netherlands). A case of focal dermal hypoplasia (Goltz syndrome), with some new aspects. Acta Paediatr Scand, 66:255, 1977.—A case of Focal Dermal Hypoplasia (Goltz syndrome), diagnosed at birth, is reported. Some findings not formerly described (hemimelia, schizis of the palatum molle and the absence of one umbilical artery) are reported. Normal findings in chromosome studies with banding techniques are discussed.     

A goodness-of-fit test for the polygenic threshold model: Application to multiple sclerosis

Recently it has been suggested that multiple sclerosis may be a multifactorial disorder. We found in British Columbia 364 families (sibship size ? 2) in which at least one sibling was diagnosed as having “clinically definite” multiple sclerosis. The data were tested for goodness-of-fit to the multifactorial model using an analysis that considers various parameters including ascertainment probability, heritability, and sex-dependent prevalence rates. The results suggest that multiple sclerosis does not fit the multifactorial model. As an alternative genetic model we propose that a major gene could be responsible for at least a portion of the cases of multiple sclerosis.     

Autosomal recessive anophthalmia with multiple congenital abnormalities—type Waardenburg

We report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.