Prenatal sonographic features of Harlequin ichthyosis.

[harlequin ichthyosis]

Harlequin ichthyosis (HI ) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance . For over a decade , prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies , and , therefore , was limited to previously affected families . Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable . We report a case of HI , in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks ' gestational age in this pregnancy complicated by premature rupture of membranes , oligohydramnios and intrauterine growth retardation . The documented prenatal findings were a flat profile with absent nose ; a large mouth , widely gaping open ; dysplastic ears ; abnormal fixed position of the hands ; and edema of thighs and feet ; and intrauterine growth retardation . Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment . The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder .

Diseases
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Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

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krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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