Skin mastocytosis, hearing loss and mental retardation.
A girl with skin mastocytosis, hearing loss, microcephaly, mild dysmorphic features and severe mental retardation is described. The symptoms of the child resemble those reported in 1990 by Wolach et al. in another patient sufficiently to suspect the same entity in both. Inheritance may be autosomal recessive.
Hennekam
R C
RC
Clinical Genetics Center Utrecht, The Netherlands.
Beemer
F A
FA
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008415:Mastocytosis / Q000235:genetics; D012640:Seizures / Q000188:drug therapy / Q000235:genetics