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Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.
Clin Genet. 1976 Jan; 9(1):35-42.CG

Abstract

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.

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Publisher Full Text

Authors

Bowen P
No affiliation info available
Armstrong HB
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentAdultAnodontiaChildChild, PreschoolCleft LipCleft PalateEctodermal DysplasiaEyelidsFemaleGenitalia, FemaleGrowth DisordersHairHumansInfantInfant, NewbornIntellectual DisabilityPedigreePigmentation DisordersSyndactylySyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

174848

Citation

Bowen, P, and H B. Armstrong. "Ectodermal Dysplasia, Mental Retardation, Cleft Lip/palate and Other Anomalies in Three Sibs." Clinical Genetics, vol. 9, no. 1, 1976, pp. 35-42.
Bowen P, Armstrong HB. Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. Clin Genet. 1976;9(1):35-42.
Bowen, P., & Armstrong, H. B. (1976). Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. Clinical Genetics, 9(1), 35-42.
Bowen P, Armstrong HB. Ectodermal Dysplasia, Mental Retardation, Cleft Lip/palate and Other Anomalies in Three Sibs. Clin Genet. 1976;9(1):35-42. PubMed PMID: 174848.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. AU - Bowen,P, AU - Armstrong,H B, PY - 1976/1/1/pubmed PY - 1976/1/1/medline PY - 1976/1/1/entrez SP - 35 EP - 42 JF - Clinical genetics JO - Clin Genet VL - 9 IS - 1 N2 - Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain. SN - 0009-9163 UR - https://wwww.unboundmedicine.com/medline/citation/174848/Ectodermal_dysplasia_mental_retardation_cleft_lip/palate_and_other_anomalies_in_three_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1976&volume=9&issue=1&spage=35 DB - PRIME DP - Unbound Medicine ER -