[Antenatal discovery of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) at 12 weeks gestation].

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis on antenatal scan in female fetuses is rare and has diagnostic implications . We report a case of megacystis-microcolon -intestinal hypoperistalsis syndrome (MMIHS ) in a female infant . The antenatal scan revealed abnormalities , but the diagnosis was not established until after delivery . MMIH is a rare autosomal recessive condition which is usually lethal in the first year of life . Prenatal diagnosis is hampered by the lack of specific diagnostic ultrasound findings and the absence of an identified genetic locus .

Diseases
Validation

Diseases presenting "female infant" symptom

aromatase deficiency

canavan disease

child syndrome

congenital toxoplasmosis

cutaneous mastocytosis

familial hypocalciuric hypercalcemia

harlequin ichthyosis

junctional epidermolysis bullosa

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

zellweger syndrome

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