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X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome.
Am J Med Genet. 1996 Dec 11; 66(2):179-83.AJ

Abstract

We describe a male and his sister's son with microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, severe mental deficiency, progressive spasticity and growth retardation. Both affected males have brachycephaly, upslanting palpebral fissures, epicanthal folds, highly arched palate, small mouth, and retrognathia. Two maternal cousins of the propositus's mother may also have been affected. Chromosomal and metabolic findings in the propositus were normal. To our knowledge, this disorder has not been reported before as an X-linked syndrome.

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Authors+Show Affiliations

Seemanová E
Department of Clinical Genetics, Charles University Hospital Prague, Motol, Czech Republic.
Lesný I
No affiliation info available

MeSH

CataractChildEye AbnormalitiesGrowth DisordersHumansHypogonadismIntellectual DisabilityMaleMicrocephalyMuscle SpasticityPedigreeSyndromeX Chromosome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8958326

Clinical Trial Links

Molecular Analysis of Microphthalmia/Anophthalmia

Citation

Seemanová, E, and I Lesný. "X-linked Microcephaly, Microphthalmia, Microcornea, Congenital Cataract, Hypogenitalism, Mental Deficiency, Growth Retardation, Spasticity: Possible New Syndrome." American Journal of Medical Genetics, vol. 66, no. 2, 1996, pp. 179-83.
Seemanová E, Lesný I. X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. Am J Med Genet. 1996;66(2):179-83.
Seemanová, E., & Lesný, I. (1996). X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. American Journal of Medical Genetics, 66(2), 179-83.
Seemanová E, Lesný I. X-linked Microcephaly, Microphthalmia, Microcornea, Congenital Cataract, Hypogenitalism, Mental Deficiency, Growth Retardation, Spasticity: Possible New Syndrome. Am J Med Genet. 1996 Dec 11;66(2):179-83. PubMed PMID: 8958326.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. AU - Seemanová,E, AU - Lesný,I, PY - 1996/12/11/pubmed PY - 2000/6/20/medline PY - 1996/12/11/entrez SP - 179 EP - 83 JF - American journal of medical genetics JO - Am J Med Genet VL - 66 IS - 2 N2 - We describe a male and his sister's son with microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, severe mental deficiency, progressive spasticity and growth retardation. Both affected males have brachycephaly, upslanting palpebral fissures, epicanthal folds, highly arched palate, small mouth, and retrognathia. Two maternal cousins of the propositus's mother may also have been affected. Chromosomal and metabolic findings in the propositus were normal. To our knowledge, this disorder has not been reported before as an X-linked syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8958326/X_linked_microcephaly_microphthalmia_microcornea_congenital_cataract_hypogenitalism_mental_deficiency_growth_retardation_spasticity:_possible_new_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=66&issue=2&spage=179 DB - PRIME DP - Unbound Medicine ER -