Melnick-Needles osteodysplasty

(mel'nick nē'dĕlz), [MIM*309350]

a generalized skeletal dysplasia with prominent forehead and small mandible; radiographically, there are irregular ribbonlike constrictions of the ribs and tubular bones; probably X-linked [MIM*309350]. Autosomal dominant and recessive inheritance [MIM*249420] have also been suggested.

Synonym(s): Melnick-Needles syndrome, osteodysplasty

Farlex Partner Medical Dictionary © Farlex 2012

Melnick-Needles syndrome

A severe X-linked bone disorder (OMIM:309350) characterised by a typical facies: exophthalmos, full cheeks, micrognathia, malalignment of teeth, flaring of the metaphyses of long bones, bowing of legs, irregular constrictions in the ribs, and sclerosis of the base of skull.

Molecular pathology
Gain-of-function mutations in FLNA, which encodes filamin A, cause Melnick-Needles syndrome.

Melnick,

John C., U.S. radiologist, 1928–.

Melnick-Needles syndrome - a generalized skeletal dysplasia with prominent forehead and small mandible. Synonym(s): osteodysplasty

Needles,

Carl F., U.S. pediatrician, 1935–.

Melnick-Needles syndrome - see under Melnick, John C

Medical Eponyms © Farlex 2012

Mentioned in

References in periodicals archive

Lesenfants, M Barr et al., "Frontootopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia," American Journal of Medical Genetics, vol.

Kurtoglu, "Melnick-Needles syndrome associated with growth hormone deficiency: a case report," Journal of Clinical Research in Pediatric Endocrinology, vol.

Chen, "Melnick-needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation," Journal of the Formosan Medical Association, vol.

Craniofacial and Dental Manifestations of Melnick-Needles Syndrome: Literature Review and Orthodontic Management

All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.