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Article

More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.

Lymphatic research and biology - 1 Jan 2008

Small Katherine, Ginsburg Howard, Greco M Alba, Sarita-Reyes Carmen, Kupchik Gabriel, Blei Francine

Abstract excerpt

Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection...

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Identifiers

PMID: 18361769
DOI: 10.1089/lrb.2007.1020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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