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Schinzel Giedion syndrome (SGS) first described in 1978, is a rare syndrome characterized by midface retraction, Choanal stenosis, prominent forehead, mult iple skeletal anomalies, hypertr ichosis, cardiac, renal and genital malformation1. Till July, 2003, more than 30 cases have been reported in the literature2. Craniofacial abnormalities of the syndrome sometimes resemble a storage or metabolic disease, but patients with SGS do not have a biochemical abnormality3,4. Multiple skeletal anomalies include wormian bones in the skull with extension of metopic suture upto the nasal route. So there is high and protruding forehead. In the limbs talipcs equinovarus, polydactyly, hypoplasia of distal phalanges may be found., Because of midface retraction nose is short with depressed nasal bridge and anteverted nares. Choanal stenosis may be present2,5-8. Regarding genital abnormality short penis, hypoplastic scrotum, hypospadius in males and hypoplasia of labia majora or minora, hymenal atresia in females are very common1. Hydronephrosis is considered as the clue for the diagnosis of this syndrome2,5. The pathogenesis of the disease remains unknown. No genetic marker is available. Autosomal recessive inheritance is likely based on documentation of one instance of affected child born to unaffected parents. Severe postnatal growth deficiency, profound mental retardation and seizure as well as visual and hearing problems may happen to those who survive3. Single NostrilA New Finding in the Phenotypic Spectrum of Schinzel Giedion Syndrome BEGUM SHARIFUN NAHER1, ATM SHAHID2, MD. KAMRUL AHSAN KHAN3, SHAHANA NARGIS4, ABDUL HAI5, MD. MONIMUL HOQUE6

Single Nostril - A New Finding in the Phenotypic Spectrum of Schinzel Giedion Syndrome