British Journal of Dermatology · 1976 · 204 citations · 17 references
MedicineDermatologyDermatopathologyHuman GeneticsPediatric DermatologyCongenital Oral AnomaliesCongenital Skin DisordersEctodermal DysplasiasLip DevelopmentOrofacial Cleft GeneticsPalate GeneticsCleft Lip Phenotype ClassificationCleft Lip SyndromesCleft Lip Without Cleft PalateCleft Palate SyndromesCongenital Cleft LipEctrodactyly-ectodermal Dysplasia-clefting SyndromeOral-facial Cleft Genetics
Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.
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The American Journal of Human Genetics
J. S. · Population · 1950 · 5.1K citations
Life Sciences, Biology, Genetics +4
Proceedings of the Royal Society of Medicine
The Indian Journal of Pediatrics · 1942 · 811 citations
THE PATHOGENESIS OF HARELIP AND CLEFT PALATE
RICHARD B. STARK · Plastic & Reconstructive Surgery · 1954 · 131 citations