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Article

Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients.

The Annals of otology, rhinology, and laryngology - 1 Jul 2020

Masood Maheer M, Mieczkowski Piotr, Malc Ewa P, Foreman Ann Katherine M, Evans James P, Clark J Madison, Rose Austin S

Abstract excerpt

OBJECTIVES: Congenital midline cervical cleft (CMCC) is a rare congenital anterior neck anatomical anomaly. We present the case of two related patients (grandchild and maternal grandmother) who were both born with a congenital midline cervical cleft along with genetic analysis. METHODS: Clinical examination of both patients and surgical excision of the grandchild was performed. Genetic analysis with exome...

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PMID: 32028786
DOI: 10.1177/0003489420906180

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