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Literature DB >> 6682447

X linked recessive inheritance of agenesis of the corpus callosum.

Abstract

A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum is reported. His 24-year-old maternal uncle, with severe psychomotor retardation but none of the other physical problems, also has agenesis of the corpus callosum demonstrated by CT scan. The implications for antenatal diagnosis are discussed.

Entities: Disease Species

Mesh：

Year: 1983 PMID： 6682447 PMCID： PMC1049013 DOI： 10.1136/jmg.20.2.122

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

7 in total

1. HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.

Authors: J H MENKES; M PHILIPPART; D B CLARK
Journal: Arch Neurol Date: 1964-08

2. [Malignant familial early infantile convulsive disoders, partial relation with aplasia of corpus callosum].

Authors: E ZIEGLER
Journal: Helv Paediatr Acta Date: 1958-04

3. [Vertebral malformations and cleft palate in two sisters, associated in one of them with agenesis of the corpus callosum; clinical, radiographic and anatomical study].

Authors: J HENNEAUX
Journal: Schweiz Arch Neurol Psychiatr Date: 1956

4. Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

Authors: J M Opitz; E G Kaveggia
Journal: Z Kinderheilkd Date: 1974-04-08

5. Clinicopathological correlations in agenesis of the corpus callosum.

Authors: J D Loeser; E C Alvord
Journal: Neurology Date: 1968-08 Impact factor: 9.910

6. Agenesis of the corpus callosum.

Authors: R B Lynn; D C Buchanan; G M Fenichel; F R Freemon
Journal: Arch Neurol Date: 1980-07

7. Agenesis of the corpus callosum: a study of the frequency of associated malformations.

Authors: M L Parrish; U Roessmann; M W Levinsohn
Journal: Ann Neurol Date: 1979-10 Impact factor: 10.422

7 in total

9 in total

Review 1. Hirschsprung disease, associated syndromes, and genetics: a review.

Authors: J Amiel; S Lyonnet
Journal: J Med Genet Date: 2001-11 Impact factor: 6.318

2. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

Authors: Nobuhiko Okamoto; Rolando Del Maestro; Rebeca Valero; Eugenia Monros; Pilar Poo; Yonehiro Kanemura; Mami Yamasaki
Journal: J Hum Genet Date: 2004-05-18 Impact factor: 3.172

Review 3. X linked mental retardation.

Authors: I A Glass
Journal: J Med Genet Date: 1991-06 Impact factor: 6.318

X linked recessive inheritance of agenesis of the corpus callosum.

1. HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.

2. [Malignant familial early infantile convulsive disoders, partial relation with aplasia of corpus callosum].

3. [Vertebral malformations and cleft palate in two sisters, associated in one of them with agenesis of the corpus callosum; clinical, radiographic and anatomical study].

4. Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

5. Clinicopathological correlations in agenesis of the corpus callosum.

6. Agenesis of the corpus callosum.

7. Agenesis of the corpus callosum: a study of the frequency of associated malformations.

Review 1. Hirschsprung disease, associated syndromes, and genetics: a review.

2. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

Review 3. X linked mental retardation.

4. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

Review 5. Absence makes the search grow longer.

6. Agenesis of the corpus callosum in two brothers.

7. [Bolus death in abnormalities of the brain].

8. CRASH syndrome: mutations in L1CAM correlate with severity of the disease.

9. Genotype-phenotype correlation in L1 associated diseases.