Frank-Ter Haar syndrome in a newborn.
Frank-Ter Haar syndrome is an unusual type of skeletal dysplasia with megalocornea and developmental delay. It is usually transmitted as autosomal recessive disorder. Only a few cases have been reported in the literature and none from India. The authors report a case with other unusual features and a short review of the condition.
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry 605 006, India.
P
P
Femitha
Rojo
R
Joy
Bahubali D
BD
Gane
B
B
Adhisivam
B Vishnu
BV
Bhat
D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D002658:Developmental Disabilities / Q000175:diagnosis; D017809:Fatal Outcome; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis