[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 "first year" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aniridia

benign recurrent intrahepatic cholestasis

child syndrome

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erythropoietic protoporphyria

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lymphangioleiomyomatosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

phenylketonuria

pleomorphic liposarcoma

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

waldenström macroglobulinemia

wolf-hirschhorn syndrome

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