Total: 1 |
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PMID (PMCID) | ||
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6517098 |
MIXED_SAMPLE | Infant |
Ruvalcaba syndrome: autosomal dominant inheritance. | ||
Sugio Y, Kajii T. Am J Med Genet. 1984;19(4):741-53. |
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A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. |