A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

TitleA new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
Publication TypeJournal Article
Year of Publication1981
AuthorsKuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I
JournalThe Journal of pediatrics
Volume99
Issue4
Pagination570-3
Date Published1981 Oct
Abstract

Five unrelated patients with a previously unrecognized mental retardation malformation syndrome are presented. Clinical features common to them include moderate mental retardation, postnatal dwarfism, susceptibility to infection in infancy, and peculiar craniofacial dysmorphia characterized by long palpebral fissuresi, high-arched and abnormal eyebrows, heavy and long eyelashes, large ears, short nasali septumi and/or depressed nasal tip, and cleft palatei. Other anomalies are stubby fingers, deformed vertebra and other bone and joint anomalies, and abnormal dermatoglyphics. The absence of familial occurrence and of consanguinityi suggests some environmental causation, but the possibility of an autosomal dominant or X-linked mode of inheritance remains. Based upon our five patients and other five of Niikawa et al, we propose this syndrome as a new disease entity.

DOI10.1016/S0022-3476(81)80256-9
Alternate JournalJ. Pediatr.
Citation Key7277097