Melnick-Neddles osteodysplasia associated with pulmonary hypertension, obstructive uropathy and marrow hypoplasia

Abstract

A three and one half-year-old female with Melnick-Needles osteodysplasia is presented. In addition to the characteristic bone roengenograms and obstructive uropathy, the patient had inadequate formation of bone marrow elements and pulmonary arter hypertension.

Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick‐Needles syndrome)

“…The frequent respiratory infections may be due to the small size of the thorax, which in turn could lead to pulmonary hypertension. The potential seriousness of this disorder is underscored by , 1966Melnick and Needles, 1966Melnick and Needles, 1966Melnick and Needles, 1966Melnick and Needles, 1966Melnick and Needles, 1966Melnick and Needles, 1966Melnick and Needles, 1966Marotcaux et al, 1968Coste et al, 1968Grurnbach et al, 1974Wendler and Kellerer, 1975Leiber et al, 1975Stoll et al, 1976Klint et al, 1977Moadel and Bryk, 1977Fryns et al, 1979Grosse and Bowing, 1980Grosse and Biiwing, 1980Theander and Ekberg, 1981Theander and Ekberg, 1981 [Moadel and Bryk, 1977;Nyhan and Sakati, 1976) (Gorlin, personal communication).…”

“…The term osteodysplasty was proposed because of the number and variety of skeletal anomalies and the lack of evidence for metabolic or endocrine pathogenesis of the disorder [Maroteaux et al, 19681. Subsequently, 13 individuals with osteodysplasty have been described in the literature, all except one apparently isolated cases [Coste et al, 1968;Martin et al, 1970;Kaufman, 1973;Grumbach et al, 1974;Wendler and Kellerer, 1975;Leiber et al, 1975;Stoll et al, 1976;Klint et al, 1977;Moadel and Bryk, 1977;Fryns et al, 1979;Grosse and Bowing, 1980;Theander and Ekberg, 19811. We report an affected male newborn infant with omphalocele, hypoplasia of kidneys, and skeletal anomalies who was born to a mother with a typical osteodysplasty phenotype and who died soon after birth.…”

Noncompaction of the ventricular myocardium in Melnick-Needles syndrome

“…The pathogenesis is uncertain although a connective tissue disorder is suspected. Affected individuals may have structural cardiac defects, such as ventricular septal defect, double outlet right ventricle [ter Haar et al, 1982], common atrioventricular canal with tetralogy of Fallot and pulmonary valve atresia [Donnenfeld et al, 1987], and mitral and tricuspid valve prolapse [Kruger et al, 1991], in addition to pulmonary hypertension without intrinsic cardiac defects [Klint et al, 1977].…”

Correction of Spine Deformity in Patients With Melnick-Needles Syndrome

“…18 Mental development and laboratory examinations are normal. Urological, pulmonary, and cardiac involvement 9,11,16,17,25,26 is common in MNS patients. In this case report, we describe the first patient with gastrointestinal involvement presented with Crohn disease and gastroesophageal reflux.…”