Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0265264 (HOS)
 1,119 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe clinical presentation in a male newborn baby who presented with thumb aplasia, forearm hypoplasia and secundum atrial septal defect (ASD II). The child has no other bone anomalies or facial dysmorphism. The ultrasound morphology of the brain is normal. He has patent ductus arteriosus, without abnormalities in the ECG record. Complete blood count (CBC) is normal. In the spectrum of hereditary diseases from the group "heart-hand", clinical presentation in our patient corresponds to Holt-Oram syndrome (HOS). The role of the neonatologist in case of anomalies of the thumb or upper limb, is to exclude possible heart failure and instruct parents about timely, interdisciplinary care for the child.
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PMID:[Holt-Oram syndrome--the importance of early diagnosis and interdisciplinary approach. A case report]. 2360 71