title: Mulvihill-Smith syndrome: case report and review.
abstract: We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.
authors: Institut für Klinische Genetik, Universitätsklinikum Carl Gustav Carus der Technischen Universität, Dresden, Germany.
authors: O
authors: O
authors: Bartsch
authors: K D
authors: KD
authors: Tympner
authors: E
authors: E
authors: Schwinger
authors: R J
authors: RJ
authors: Gorlin
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D000328:Adult; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D005147:Facial Bones / Q000000981:diagnostic imaging; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D009055:Mouth / Q000000981:diagnostic imaging; D009508:Nevus, Pigmented / Q000503:physiopathology; D011859:Radiography; D012878:Skin Neoplasms / Q000503:physiopathology; D013577:Syndrome