Smith lemli opitz syndrome
A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.
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Niloufer Hospital
MD Pediatrics
Nilofer Hospital, Osmania Med College
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Shree Krishna Hospital
Resident
Pramukhswami Medical College
MD, INTERNAL MEDICINE
Rainbow Hospital
Registrar
Goa Medical College
MD Pediatrics
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Tibial aplasia and prosthetic Leg restoration. *Chief Complaints* Due to congenital anomalies she walks with abnormal gait patterns. *History* When she was born 28 years ago with such congenital anomalies. Her parents never thought that their 5th girl child would be the same as others 4 . But she had different problems with tibial aplasia and others 4 having complex syndactyly in both hands. Same as their father having complex syndactyly. *Vitals* Unable to perform activities of daily living. *Physical Examination* Problem with walking and gripping and grasping. *Management* 28 years old girl looking for Prosthetics management for tibial aplasia. Our team takes measurements and casting for Prosthetic Leg restoration. Now she walks comfortably with a new prosthetic Leg.
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