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Journal of Medical Genetics Jan 1991
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 8; Diagnosis, Differential; Face; Female; Growth Disorders; Hand Deformities, Congenital; Humans; Hypertelorism; Male; Scotland; Scrotum; Syndrome; X Chromosome
PubMed: 1999832
DOI: 10.1136/jmg.28.1.44 -
Journal of Medical Genetics Jun 1988Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility...
Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Face; Female; Fingers; Genes, Recessive; Genitalia, Male; Humans; Infant; Male; Pedigree; Syndrome
PubMed: 3398008
DOI: 10.1136/jmg.25.6.400 -
Journal of Medical Genetics Dec 1983
Topics: Abnormalities, Multiple; Child; Face; Foot Deformities, Congenital; Humans; Hypertelorism; Male; Metatarsus; Syndrome
PubMed: 6655680
DOI: 10.1136/jmg.20.6.477