Genetic disorders-Pediatric Oncall

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Rakesh Kumar, Puja Bhagat Department of Pediatrics, Katihar Medical College, Katihar, Bihar, India ...

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Question
Respected Sir i want to have your opinion on this case. he is a seven month old male child. born to a gravida 2 mother. first pregnancy terminted due to anencephaly. antenatal USG normal during this pregnancy. FTND LBW birth weight 2.0kg, length 38 cm, head circumference 32cm. (had E/o intrauterine dwarfism no neonalal problem he has one following features primordial dwarfism length 50cm weight 5kg < 3 percentile head O 42cm . upper segment to lower segment=2.33 head relatively large than body. short chest, no upper limb shortening clinodactyly, single palmer crease, but no trident hand. normal intelligence, but gross motor milestones delayed. x-ray long bones and spine normal. cranial USG normal. thyroid profile normal. chromosomal study is normal the above features are s/o acondroplasia,or hypochondroplsia. but there is no e/o trident hand. or any features on x-ray. please guide me further.
Answer
Ye sform the description given it looks like achondroplasia. However it would be difficult to comment wihtout having a look at the child. Read the article on "ACHONDROPLASIA" on www.pediatriconcall.com for further details: http://www.pediatriconcall.com/fordoctor/diseasesandcondition/GENETIC_DISORDERS/achondroplasia.asp Back to All Questions

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