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Article

Child with KBG syndrome.

BMJ case reports - 4 Dec 2024

Jyothi Badiginchala Naga, Angel Sumathi, Ravi Kumar Chinthalapalli Prakash, Tamhankar Parag M

Abstract excerpt

We report a male child with developmental delay, microcephaly and facial dysmorphism in the form of a turri-brachycephaly-shaped skull, triangular face, posteriorly rotated lop ears, thick bushy eyebrows, synophrys, long deep philtrum and prominent incisors. The mobile application Face2Gene was used to screen the patient's facial photographs for known syndromes. The application suggested a high likelihood of KBG...

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Identifiers

PMID: 39631901
DOI: 10.1136/bcr-2024-260238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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