Melnick-Needles syndrome

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).

合計: 1

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PMID (PMCID)
8831131	MIXED_SAMPLE	Adult
	Melnick-Needles syndrome in a mother and her son.
	Neou P, Kyrkanides S, Gioureli E, Bartsocas CS. Genet Couns. 1996;7(2):123-9.
	The Melnick-Needles syndrome is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, hypertelorism, full checks and small mandible), skeletal defects and short stature.