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

cole-carpenter syndrome
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MD Pediatrics

pediatrics

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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

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Rourkela
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SHANTI MEMORIAL HOSPITAL

CONSULTANT PEDIATRICIAN MD,DNB

IPGME&R

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Barpali
2564 followers

Self Employed. Now Doing My Practice

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MKCG MCH

MBBS and MD (pediatrics)

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