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The Coffin-Siris syndrome


Schinzel, Albert (1979). The Coffin-Siris syndrome. Acta Paediatrica, 68(4):449-452.

Abstract

A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.

Abstract

A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Uncontrolled Keywords:General Medicine, Pediatrics, Perinatology and Child Health, Coffin-Siris syndrome, autosomal recessive inheritance, phalangeal hypoplasia
Language:English
Date:July 1979
Deposited On:20 Oct 2023 07:17
Last Modified:29 Apr 2024 01:40
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0803-5253
OA Status:Closed
Publisher DOI:https://doi.org/10.1111/j.1651-2227.1979.tb05037.x
PubMed ID:155976
Other Identification Number:Corpus ID: 261895237