Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram Syndrome.

[holt-oram syndrome]

Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal and cardiac defects . Pulmonary malformation is not reported to belong to the spectrum of this condition . We report a second case of a newborn with Holt-Oram syndrome who developed severe respiratory insufficiency shortly after birth . We discuss possible genetic links between abnormal pulmonary morphogenesis and Holt-Oram syndrome .

Diseases
Validation

Diseases presenting "cardiac defects" symptom

22q11.2 deletion syndrome

achondroplasia

child syndrome

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kallmann syndrome

monosomy 21

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