Case 346 -- Microcephaly and developmental delay

Contributed by Jing Yu, MD, PhD, Federico Monzon, MD, PhD, Xiao-Ming Yin, MD, PhD, Jeffrey Kant, MD, PhD
Published on line in April 2003


CLINICAL HISTORY:

This baby boy with postnatal onset microcephaly had speech impairment and global developmental delay that were noted at 12 months of age. He also had feeding problems which included gagging, choking and frequent drooling. He was born by Cesarean section for breech presentation to a 28-year-old G1P1 subsequent to an unremarkable pregnancy. There is no family history of developmental delay or neurological problems.

PHYSICAL SIGNS:

DIFFERENTIAL DIAGNOSES:

RESULTS OF PREVIOUS STUDIES:

MOLECULAR DIAGNOSTIC STUDIES

FINAL DIAGNOSIS


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