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Literature DB >> 677168

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers.

Abstract

Two severely mentally retarded brothers are described who had a similar facial appearance, cataracts, short stature, minor digital abnormalities, and primary hypogonadism. Their parents were first cousins. Numerous laboratory investigations failed to elucidate a basic metabolic cause for their disorder.

Entities: Disease

Mesh：

Year: 1978 PMID： 677168 DOI： 10.1002/ajmg.1320010305

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

Keyword Cloud
Cited

18 in total

1. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors: J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal: Am J Hum Genet Date: 2001-07-03 Impact factor: 11.025

2. Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.

Authors: A Mégarbané; K Kharrat; G Kreichati
Journal: J Med Genet Date: 1998-09 Impact factor: 6.318

Review 3. Hypogonadism and neurological diseases.

Authors: Abdulaziz Alsemari
Journal: Neurol Sci Date: 2013-01-05 Impact factor: 3.307

4. Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

Authors: M G Harbord; M Baraitser; J Wilson
Journal: J Med Genet Date: 1989-06 Impact factor: 6.318

5. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors: L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal: Am J Hum Genet Date: 2000-03-15 Impact factor: 11.025

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers.

1. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

2. Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.

Review 3. Hypogonadism and neurological diseases.

4. Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

5. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

6. Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

7. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

8. Two brothers with Martsolf's syndrome.

9. Martsolf's syndrome in a non-Jewish boy.

Review 10. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.