multiple malformation syndrome

A general term for any of a group of disorders defined by developmental anomalies of two or more organ systems, typically linked to chromosomal damage, teratogens and environmental influences. Examples include Cornelia de Lange syndrome, Prader-Willi syndrome, Rubinstein-Taybi syndrome and Williams’ syndrome.

multiple malformation syndrome

Any of the developmental anomalies affecting two or more systems in the fetus. The anomalies may be caused by chromosomal and genetic abnormalities or by teratogens, including certain drugs and chemicals. In determining causes, it is important to obtain a complete family history and the history of exposure to known teratogens and infectious diseases.

See: amniotic band disruption sequence syndrome

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Structural defects of prenatal onset may represent a single primary defect in development or a multiple malformation syndrome. The aetiology of most of the single primary defects of development are unknown but may are explained on the basis of multifactorial inheritance, where the recurrence risk is between 3-5% for the next child of the unaffected parents with one affected child.

CLINICAL AND KARYOTYPIC PROFILE OF CHILDREN WITH DYSMORPHOLOGY

Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient.

Yeast infection in pregnancy? Think twice about fluconazole

This disorder commonly occurs as one feature in a multiple malformation syndrome such as the Stickler syndrome.

Defining a Diagnosis

It is interesting to note that in human medicine syndactyly appears in numerous multiple malformation syndromes, some with renal impairment [10].

Case Report of Bilateral 3-4 Metatarsal Syndactyly in a Pet Rabbit

Bernstein (47,48) acknowledged, however, that not all dysplastic kidneys are associated with obstruction because the many familial multiple malformation syndromes argue for a genetic etiology.

The diverse entities characterized by the metanephric dysgenesis and LUT abnormalities of CAKUT are clustered together into the second category that accommodates their occurrence in sporadic, syndromic, and multiple malformation syndromes, while allowing for combinations of renal and LUT defects that can affect the same kidney.

The classification of renal cystic diseases and other congenital malformations of the kidney and urinary tract

Evidence for this heterogeneity is suggested by the occasional occurrence of this complex in chromosomal and other multiple malformation syndromes. (4)

Radiological case of the month: Paritosh C. Khanna, MD, DMRE; Alpa Bharati, MD; Suleman A. Merchant, MD, DMRD