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October 11, 2025

An uncommon finding of Menke-Hennekam syndrome 1 associated with congenital diaphragmatic hernia and autism-like features

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Authors

KRKamini RaghuramMount Sinai HospitalJJJacqueline JacksonMount Sinai HospitalDCDavid ChitayatMount Sinai Hospital

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Implication

Case report reveals congenital diaphragmatic hernia and autism-like features in MKHK1, suggesting novel associations.

Key Points

  • The case highlights a new association of congenital diaphragmatic hernia with menke-hennekam syndrome 1.
  • Genetic analysis revealed a de novo heterozygous variant in the crebbp gene linked to developmental issues.
  • This case emphasizes the need for whole exome sequencing when chromosomal microarray analysis is normal.
  • Developmental follow-up is crucial for timely interventions and family support in affected individuals.

Cite This Study

Raghuram et al. (2025) studied this question.

synapsesocial.com/papers/68e9b1d0ba7d64b6fc132a85https://doi.org/10.3138/jcin-2025-0007
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