Abstract
We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic.
MeSH terms
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Female
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Focal Dermal Hypoplasia / complications*
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Focal Dermal Hypoplasia / diagnosis*
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Focal Dermal Hypoplasia / genetics
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Genetic Diseases, X-Linked / complications
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Genetic Diseases, X-Linked / diagnostic imaging
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Genetic Diseases, X-Linked / genetics
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Humans
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Infant
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Limb Deformities, Congenital / complications
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Limb Deformities, Congenital / diagnostic imaging
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Limb Deformities, Congenital / genetics
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Phenotype
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Radiography
Supplementary concepts
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Split hand foot deformity