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.
Disease Alternative Name
Niloufer Hospital
MD Pediatrics
Nilofer Hospital, Osmania Med College
MD pediatrics
Shree Krishna Hospital
Resident
Pramukhswami Medical College
MD, INTERNAL MEDICINE
Rainbow Hospital
Registrar
Goa Medical College
MD Pediatrics
Bhagwan Ram Charitable Hospital
Emergency Medical Officer .
ADI CHUN CHUN GIRI INSTITUTE OF MEDICAL SCIENCES. KARNATAKA.
MB.BS.
LLRM
Senior Resident
Siddhivinayak Clinic
Lceh Gp
Jagadguru Jayadeva Murugarajendra Medical College
Retired Professor and Head Pediatrics
Jagadguru Jayadeva Murugarajendra Medical College
md,frcpch(uk),ficpcc(London),masp(usa),phd, fams ,fimsa.
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How would you describe the current understanding of autism in Indian population?
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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.
Dr. Narendra Kumar4 Likes2 Answers Which of the following approaches have you found effective when treating autistic patients in dental practice?
Dental-Insights2 Likes1 Answer