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Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?
J Med Genet. 1999 Aug; 36(8):637-40.JM

Abstract

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.

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Authors+Show Affiliations

Mégarbané A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Choueiri R
No affiliation info available
Bleik J
No affiliation info available
Mezzina M
No affiliation info available
Caillaud C
No affiliation info available

MeSH

Abnormalities, MultipleBrainCataractChild, PreschoolFemaleHumansInfantInfant, NewbornIntellectual DisabilityMagnetic Resonance ImagingMaleMicrocephalyOptic AtrophyPedigreePregnancySyndrome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10465117

Citation

Mégarbané, A, et al. "Microcephaly, Microphthalmia, Congenital Cataract, Optic Atrophy, Short Stature, Hypotonia, Severe Psychomotor Retardation, and Cerebral Malformations: a Second Family With Micro Syndrome or a New Syndrome?" Journal of Medical Genetics, vol. 36, no. 8, 1999, pp. 637-40.
Mégarbané A, Choueiri R, Bleik J, et al. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? J Med Genet. 1999;36(8):637-40.
Mégarbané, A., Choueiri, R., Bleik, J., Mezzina, M., & Caillaud, C. (1999). Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? Journal of Medical Genetics, 36(8), 637-40.
Mégarbané A, et al. Microcephaly, Microphthalmia, Congenital Cataract, Optic Atrophy, Short Stature, Hypotonia, Severe Psychomotor Retardation, and Cerebral Malformations: a Second Family With Micro Syndrome or a New Syndrome. J Med Genet. 1999;36(8):637-40. PubMed PMID: 10465117.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? AU - Mégarbané,A, AU - Choueiri,R, AU - Bleik,J, AU - Mezzina,M, AU - Caillaud,C, PY - 1999/8/28/pubmed PY - 1999/8/28/medline PY - 1999/8/28/entrez SP - 637 EP - 40 JF - Journal of medical genetics JO - J Med Genet VL - 36 IS - 8 N2 - We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/10465117/Microcephaly_microphthalmia_congenital_cataract_optic_atrophy_short_stature_hypotonia_severe_psychomotor_retardation_and_cerebral_malformations:_a_second_family_with_micro_syndrome_or_a_new_syndrome L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=10465117 DB - PRIME DP - Unbound Medicine ER -