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Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies


Braegger, C; Bottani, A; Halle, F; Giedion, Andres; Leumann, E; Seger, R; Willi, U; Schinzel, Albert (1991). Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. Journal of Medical Genetics, 28(1):56-59.

Abstract

We report a 6 year old male with a pattern of malformations and anomalies including intrauterine growth retardation, microcephaly, psychomotor retardation, a pattern of craniofacial anomalies (flat face, hypertelorism, epicanthic folds, strabismus, short nose, low set ears), hypospadias and cryptorchidism, bilateral partial cutaneous syndactyly between fingers 2 to 5 and toes 2 to 4, postaxial polydactyly of the fingers and toes, severe conductive hearing loss, hypoplasia of the ischiadic bones, complex renal dysfunction, hypogammaglobulinaemia with proneness to bacterial infections of the upper and lower respiratory tract, and recurrent pseudomembranous enterocolitis. The parents are cousins of Turkish origin.

Abstract

We report a 6 year old male with a pattern of malformations and anomalies including intrauterine growth retardation, microcephaly, psychomotor retardation, a pattern of craniofacial anomalies (flat face, hypertelorism, epicanthic folds, strabismus, short nose, low set ears), hypospadias and cryptorchidism, bilateral partial cutaneous syndactyly between fingers 2 to 5 and toes 2 to 4, postaxial polydactyly of the fingers and toes, severe conductive hearing loss, hypoplasia of the ischiadic bones, complex renal dysfunction, hypogammaglobulinaemia with proneness to bacterial infections of the upper and lower respiratory tract, and recurrent pseudomembranous enterocolitis. The parents are cousins of Turkish origin.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics
Language:English
Date:January 1991
Deposited On:24 Oct 2023 10:27
Last Modified:30 May 2024 01:47
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Publisher DOI:https://doi.org/10.1136/jmg.28.1.56
PubMed ID:1999836
Other Identification Number:Corpus ID: 261902861 / PMCID: PMC1016751