title: Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.
abstract: A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance.
authors.affiliation: Clinical Genetics Center, Utrecht, The Netherlands.
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: A G
authors.initials: AG
authors.lastname: van de Meeberg
authors.forename: J M
authors.initials: JM
authors.lastname: van Doorne
authors.forename: P F
authors.initials: PF
authors.lastname: Dijkstra
authors.forename: J B
authors.initials: JB
authors.lastname: Bijlsma
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001827:Body Height; D002386:Cataract; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome