Ruvalcaba Syndrome (a rare progeroid syndrome). A new case and review of the literature

Abstract

In 1971, Ruvalcaba et. al. described a familial multiple congenital anomaly syndrome characterized by skeletal dysplasia, short stature, small hands and feet, microcephaly, unusual face, and mental retardation. Similar cases previously reported by Hunter (1977/six cases) were reclassified as Hunter Mc. Alpine, and those from Sugio and Kajii (1984/five cases), as tricho-rhino-phalangeal syndrome type III.

We report a 14 year-old female with skeletal dysplasia, peculiar fades (progeroid), mental retardation, microcephaly, sparse hair, high forehead, arched eyebrows, downslanting palpebral fissures, puberal delay, beaked nose with hypoplastic nasal alae, microstomia with narrow maxilla, thin lips, downturned mouth corners, large areolae, hypoplasytic skin, pectus excavatum, joint limitations, small hands with short phalangs and metacapals and coned epiphyses, short fingers and toes. In addition, she had several anomalies not previously described such as severe congenital cardiac malformation, bilateral coroidosis. By analyzing groups ol similar patients, either familial or sporadic, it may be possible to define the diagnostic clinical criteria for this syndrome, and also outline the variability of the manifestations and its natural history. The cause of Ruvalcaba syndrome remains unclear. The occurrence of the syndrome suggests autosomal dominance inheritance with incomplete penetrance. The relevance of this paper is the new clinical findings revealed by our patient and that in addition it represenls the 8^th case reported in the literature, and the first in Venezuela.