Geleophysic dysplasia: A storage disorder affecting the skin, bone, liver, heart, and trachea

Patients with geleophysic dysplasia are not always geleophysic

“…Renal hypoplasia of patient 1 maybe an unrelated anomaly. The histological and ultrastructural alterations present in our two cases are similar to those previously described by Spranger et al [1971Spranger et al [ , 1984a, Lipson et al [1987], Wraith et al [1990], Shohat et al [1990] and Pontz et al [1996]. Fatty degeneration and hepatic fibrosis found in case 2 have not been described before in GD.…”

“…It seems that the severe form is characterized by progressive thickening of the heart valves or progressive upper respiratory stenosis, usually leading to death at the age of 5 or before, as in the case of Vanace et al [1960] and cases 2 and 3 of Spranger et al [1984a]. The intermediate form is less or nonprogressive with survival beyond adolescence, as in cases 2 and 3 of Shohat et al [1990], the 12-year-old boy of Spranger et al [1984a], the three cases of Pontz et al [1996] and our cases. The cases reported by Spranger et al [1984a] show the coexistence of severe and intermediate forms within the same family.…”

“…On the other hand, case 1 has markedly similar facial traits and the same stocky build as case 3 of Rosser et al [1995]. These differences could be due to the wide variability of this condition, pointed out previously by Lipson et al [1987], Wraith et al [1990] and Shohat et al [1990]. Lipson et al [1987] divide GD into severe and intermediate forms.…”

Subglottic stenosis in short-statured children: A case for further investigation of airway symptoms in patients with skeletal dysplasias

“…Fell and Stanhope [5] made further report of one of Winter's four patients with subglottic stenosis requiring tracheotomy. Shohat et al [6] reported on six patients with geleophysic dysplasia, one of whom died of a progressive respiratory decline with a markedly stenotic larynx, subglottis, trachea, and mainstem bronchi. All of these patients were children, but Hopkin et al [7] have also described three cases of progressive laryngotracheal stenosis associated with short stature and arthropathy in adults with features similar to the above-noted syndromes.…”

Perthes-like Changes in Geleophysic Dysplasia

“…Dysplasia of the femoral capital epiphysis has been reported in only two cases (2,3). Only one patient was diagnosed as having Legg-Calve´-Perthes disease of his right hip (1).…”