Carpenter syndrome
Bone dysplasia due to autosomal dominant mutation(s) in the P4HB gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the SEC24D gene, encoding SEC24 homolog D, COPII coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia.
Disease Alternative Name
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General Hospital Kanakapur
Md Pediatrics
MD Pediatrics
pediatrics
Radiologist
District Hospital
SN MEDICAL COLLEGE,
DMRD
Attached To Charitable Organizations As Honorary Holistic Health Consultant
HOLISTIC HEALTH CONSULTANT PRACTISING COMPLEMENTARY& INTEGERATED MEDICINE Especially EBH..Evidence Based HOMOEOPATHY Since 1984 *****************************************************A Ph.D Thesis Guide & Assessor
M.D..FF.HOM, D.A.c..D.Sc.
SHANTI MEMORIAL HOSPITAL
CONSULTANT PEDIATRICIAN MD,DNB
IPGME&R
MD
Self Employed. Now Doing My Practice
Pediatric Consultant
MKCG MCH
MBBS and MD (pediatrics)
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