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Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?
Genet Couns. 1997; 8(2):127-32.GC

Abstract

A new MCA/MR syndrome?: Two sibs are described who shares as clinical features microcephaly, short stature, deep set eyes, thick eyebrow, straight long nose with prominent bridge, septum extending below alae nasi, short philtrum, small mouth, high palate, prominent everted lower lip, and brachytelephalangy. To the best of our knowledge, this association has not been reported before.

Authors+Show Affiliations

Mégarbané A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beyrouth, Liban.
Abi Moussa M
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentAdultCraniofacial AbnormalitiesDwarfismFingersHand Deformities, CongenitalHumansIntellectual DisabilityMaleMicrocephalyPhenotypeSyndrome

Pub Type(s)

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

Language

eng

PubMed ID

9219011

Citation

Mégarbané, A, and M Abi Moussa. "Brachytelephalangy With Mental Retardation, Peculiar Face and Short Stature in Two Sibs. a New MCA/MR Syndrome?" Genetic Counseling (Geneva, Switzerland), vol. 8, no. 2, 1997, pp. 127-32.
Mégarbané A, Abi Moussa M. Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome? Genet Couns. 1997;8(2):127-32.
Mégarbané, A., & Abi Moussa, M. (1997). Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome? Genetic Counseling (Geneva, Switzerland), 8(2), 127-32.
Mégarbané A, Abi Moussa M. Brachytelephalangy With Mental Retardation, Peculiar Face and Short Stature in Two Sibs. a New MCA/MR Syndrome. Genet Couns. 1997;8(2):127-32. PubMed PMID: 9219011.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome? AU - Mégarbané,A, AU - Abi Moussa,M, PY - 1997/1/1/pubmed PY - 1997/1/1/medline PY - 1997/1/1/entrez SP - 127 EP - 32 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 8 IS - 2 N2 - A new MCA/MR syndrome?: Two sibs are described who shares as clinical features microcephaly, short stature, deep set eyes, thick eyebrow, straight long nose with prominent bridge, septum extending below alae nasi, short philtrum, small mouth, high palate, prominent everted lower lip, and brachytelephalangy. To the best of our knowledge, this association has not been reported before. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/9219011/Brachytelephalangy_with_mental_retardation_peculiar_face_and_short_stature_in_two_sibs__A_new_MCA/MR_syndrome L2 - http://www.diseaseinfosearch.org/result/6576 DB - PRIME DP - Unbound Medicine ER -