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Macrocephaly-capillary malformation syndrome: three new cases.

Inusha Panigrahi¹, Mani Bhushan, Mukesh Yadav

¹Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh-12, India. inupan@yahoo.com

Journal of the Neurological Sciences

|October 28, 2011

Summary

Macrocephaly-Capillary Malformation (M-CM) is an overgrowth syndrome with distinct features like large head and capillary malformations. Early identification is crucial for managing associated complications and genetic counseling.

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Area of Science:

Genetics
Pediatrics
Dermatology

Background:

Overgrowth syndromes encompass a range of conditions characterized by excessive growth.
Macrocephaly-Capillary Malformation (M-CM) is a recently identified overgrowth syndrome with specific clinical manifestations.

Observation:

Three patients presenting with macrocephaly, capillary malformations, dysmorphic facial features, and neurocognitive deficits were evaluated.
Clinical findings included body and brain asymmetry, developmental delay, joint laxity, and syndactyly.

Findings:

The observed cases align with the diagnostic criteria for Macrocephaly-Capillary Malformation syndrome.
A unique presentation of bluish-white irises was noted in one patient, a feature not previously reported.

Implications:

Accurate diagnosis of M-CM is essential for appropriate patient surveillance and management of potential complications.
Refining diagnostic criteria, potentially including facial features as minor criteria, can aid in earlier identification.