Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

doi:10.1002/ajmg.1320560320

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Article

Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

American journal of medical genetics - 10 Apr 1995

Hamel B C, Draaisma J M, Pinckers A J, Boetes C, Hoppe R L, Ropers H H, Brunner H G

Abstract excerpt

We report on a patient with congenital glaucoma, brachycephaly with flat occiput, large anterior fontanel, hypertelorism, anteverted nostrils, thoracolumbar kyphosis, prominent coccyx with skin fold, short hands and feet, flexion deformity of fingers, and clubfeet. He had a double-outlet right ve...

Topics

Diagnosis, Differential
Family
Fatal Outcome
Humans
Infant, Newborn
Male
Osteochondrodysplasias
Pedigree
Phenotype
Radiography
Terminology as Topic

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