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Picture of the Month

Sanjiv Sood, MD; George P. Giacoia, MD; Walter W. Tunnessen Jr, MD
Arch Pediatr Adolesc Med. 1994;148(11):1189-1190. doi:10.1001/archpedi.1994.02170110075012.
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Denouement and Discussion 

Smith-Lemli-Opitz Syndrome 

CLINICAL MANIFESTATIONS  A syndrome of mental and growth retardation and unusual facies with skeletal and urogenital anomalies was first described by Smith et al1 (the Smith-Lemli-Opitz syndrome) in 1964. The unusual facies consists of microcephaly, ptosis and nevus flammeus of the eyelids, a short nose with anteverted nostrils, micrognathia, and a broad and prominent nasal bridge. Most affected individuals have low-set or posteriorly angulated ears and abnormally shaped auricles with hypoplasia of the lower portion of the helix. Other major ocular and oral abnormalities include antimongoloid slant of the palpebral fissures, cataracts, epicanthal folds, short tongue, high arched palate with prominent alveolar ridges, and a short neck with redundant skin folds. Abnormalities of the hands include syndactyly, short displaced thumbs, clinodactyly of the fifth finger, flexion contractures of some or all of the fingers resulting in overlapping or clenched fist, and hypoplastic supernumerary digits


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