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1.
Genet Couns ; 25(4): 395-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25804017

RESUMO

Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.


Assuntos
Anormalidades Múltiplas/patologia , Anoftalmia/patologia , Ceco/anormalidades , Anormalidades Múltiplas/diagnóstico , Anoftalmia/diagnóstico , Ceco/cirurgia , Feminino , Humanos , Recém-Nascido
2.
Eur Rev Med Pharmacol Sci ; 16 Suppl 4: 52-4, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23090808

RESUMO

Midgut volvulus is a life-threatening condition that commonly presents during the first year of life rarely antenatally. Here we report successful urgent surgical management of an unusual case with malrotation exhibiting the sonographic findings of volvulus in utero that leads to premature birth. This 34-wk, 2700 g infant was born via spontaneous vaginal delivery. Prenatal ultrasound showed polyhydramnios and 30 x 40 mm cystic lesion showing whirlpool sign in abdomen that made us think midgut volvulus. The patient had distended abdomen with skin discoloration. An emergency surgical management was performed showing malrotation, volvulus and a 15 cm ischemic necrotic region of terminal ileum.


Assuntos
Volvo Intestinal/cirurgia , Anormalidade Torcional/cirurgia , Ultrassonografia Pré-Natal , Adulto , Feminino , Humanos , Recém-Nascido , Volvo Intestinal/diagnóstico por imagem , Gravidez , Anormalidade Torcional/diagnóstico por imagem
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