Abstract
Disorganization (Ds) is a mouse mutant in which heterozygotes manifest defects in various organ systems including cranioschisis, hamartomas, limb abnormalities, body wall defects, eye defects, and craniopharyngeal defects. We report four patients with developmental anomalies that are seen in amniotic band sequence (ABS) with additional anomalies that could not be explained by amniotic bands alone. The anomalies seen in our patients included facial malformation and clefting, brain anomalies (encephalocele, agenesis of the corpus callosum, holoprosencephaly), eye anomalies (anophthalmia, microphthalmia, and microcornea), and extremity and digit anomalies (talipes equinovarus, absent/hypoplastic phalanges, amputation of an extremity, syndactyly, polydactyly, and anomalous attachment of an extremity). Other systems involved include genitourinary anomalies (hydronephrosis and abnormal testes, epidydimis and seminal vesicles), and skin appendages similar to those seen in Ds mice. Presence of amniotic bands in addition to malformations not attributed to amniotic bands, were seen in three of four patients. The four patients in this report have involvement of at least four organ systems including the skin appendages that have been reported in the Ds mouse and have clinical findings that overlap the spectrum of Ds and ABS.
Published Version
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