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Article

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.

Congenital anomalies - 1 Dec 2012

Hakan Nilay, Eminoglu Fatma Tuba, Aydin Mustafa, Zenciroglu Aysegul, Karadag Nazmiye Nilgun, Dursun Arzu, Okumus Nurullah, Ceylaner Serdar

Abstract excerpt

Crisponi syndrome is an infrequently described disorder with autosomal recessive trait. It is characterized by extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Muscle contractions attenuate during rest or when the infant calms down. As a recently described new disease, Crisponi syndrome may be confused with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23181498
DOI: 10.1111/j.1741-4520.2012.00360.x

Genes

CRLF1

Provenance

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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Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.PMID 23181498Read ↗

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