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

doi:10.1016/S0022-3476(81)80256-9

The Journal of Pediatrics

Volume 99, Issue 4, October 1981, Pages 570-573

https://doi.org/10.1016/S0022-3476(81)80256-9 Get rights and content

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

References (2)

NiikawaN et al.
Kabuki Make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency
J Pediatr
(1981)
Secular trend of vital statistics relating to maternal and child health in Japan
(1979)

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Citation Excerpt :
Oftentimes, these disorders had been clinically described before the molecular etiology has been established. The first described syndrome related to mutations in KMT2s, which were not yet identified at that time, was Kabuki syndrome (KS) [186,187], named thusly because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form. It is estimated that approximately 75 % of cases of Kabuki syndrome are caused by mutations in the KMT2D gene [14], and most of them lead to a shortened and unfunctional version of the enzyme [13,188–190].
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Original articleA new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

J Pediatr

Secular trend of vital statistics relating to maternal and child health in Japan

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