A new familial intrauterine growth retardation syndrome the "3-M syndrome"

Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are...

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Bibliographic Details
Published in:European Journal of Pediatrics 1976-01, Vol.123 (2), p.115-124
Main Authors: Spranger, J, Opitz, J M, Nourmand, A
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Adult
Birth Weight
Body Height
Child
Craniofacial Dysostosis - genetics
Dwarfism - congenital
Female
Humans
Infant, Newborn
Male
Metacarpus - abnormalities
Pregnancy
Sibling Relations
Spine - abnormalities
Syndrome
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Description
Summary:Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.
ISSN:0340-6199
0340-6997
1432-1076
DOI:10.1007/bf00442641