Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: report of a case with thumb hypoplasia.
Four unrelated cases of congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects were reported by McCredie and Reid in 1978 (J Pediatr 92: 762-765). As contiguous segments of the cervical neural crest are involved in the development of diaphragm and arms, the authors suggested that an early injury to the cervical neural crest might be the common underlying pathogenesis. We describe here a further example of this malformation complex: a newborn with a left posterolateral diaphragmatic hernia associated with ipsilateral thumb hypoplasia.
Lerone
M
M
Istituto G. Gaslini, Ambulatorio di Genetica Molecolare, Genova, Italy.
Soliani
M
M
Corea
D
D
Romeo
G
G
Martucciello
G
G
Silengo
M C
MC
D000015:Abnormalities, Multiple / Q000196:embryology*; D003878:Dermatoglyphics; D005158:Facial Paralysis / Q000150:complications / Q000151:congenital; D006548:Hernia, Diaphragmatic / Q000196:embryology / Q000453:epidemiology; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D009432:Neural Crest / Q000473:pathology; D011884:Radius / Q000002:abnormalities* / Q000196:embryology; D013933:Thumb / Q000002:abnormalities*