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Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 1

(per page)

PMID (PMCID)
1392379	MIXED_SAMPLE	Infant
	Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization.
	Fukazawa R, Nakahori Y, Kogo T, Kawakami T, Akamatsu H, Tanae A, Hibi I, Nagafuchi S, Nakagome Y, Hirayama T. Acta Paediatr. 1992;81(6-7):570-2.
	We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, micrognathia, high-arched palate, cleft palate, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.