Variability in kyphomelic dysplasia

Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In the first family, sibling recurrence in female sibs was noted with atypical kyphomelic dysplasias, suggesting autosomal recessive inheritance. In the second family, with a male affe...

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Bibliographic Details
Published in:Pediatric radiology 1999-07, Vol.29 (7), p.551-557
Main Authors: CISARIK, F, KOZLOWSKI, K, MASEL, J, SILLENCE, D
Format: Article
Language:English
Subjects:
Abortion, Induced
Biological and medical sciences
Bone Diseases, Developmental - diagnostic imaging
Bone Diseases, Developmental - genetics
Bone Diseases, Developmental - pathology
Diseases of the osteoarticular system
Fatal Outcome
Female
Fetal Death
Genes, Recessive
Genetic Variation
Humans
Infant, Newborn
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Pregnancy
Radiography
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Description
Summary:Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In the first family, sibling recurrence in female sibs was noted with atypical kyphomelic dysplasias, suggesting autosomal recessive inheritance. In the second family, with a male affected with the 'typical findings' of lethal kyphomelic dysplasia, diagnosis of a skeletal dysplasia was suspected at 29-30 weeks' gestation following US detection of short, bent femurs. In the third family, with a female affected, severe radiographic changes were documented at birth. The clinical course of the disease was mild with almost complete regression of the radiographic findings at the age of 7 years.
ISSN:0301-0449
1432-1998
DOI:10.1007/s002470050644