A new lethal sclerosing bone dysplasia

Abstract

A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology.

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation

“…and in two other cases [Kingston et al, 1991;Rejjal, 1998]. Moreover, the three sibs previously reported separately [Patel et al, 1992;Al Mane et al, 1996, Rejjal, 1998] were born to an Arabic-Moslem family from Saudi Arabia, whereas our patient was born to an Arabic-Bedouin Moslem family.…”

“…The parents were first cousins. Kan and Kozlowski [1992] described the autopsy findings in a female infant with generalized osteosclerosis and craniofacial anomalies representing a lethal syndrome identical to that previously reported in single cases by Raine et al [1989] and Kingston et al [1991]. They subsequently coined the term Raine syndrome for what appeared to be a distinct entity.…”

“…Prenatal bone fractures were noted in one case [Kingston et al,1991], and were suggested in another [Kan and Kozlowski, 1992].…”

Clinical phenotype of desmosterolosis

“…Four cases of Raine syndrome have been reported [Raine et al, 1989;Kingston et al, 1991;Kan and Kozlowski, 1992;Al Mane et al, 1996]. This is a neonatally lethal condition characterised by generalised osteosclerosis with severe nasal hypoplasia.…”

“…It is now critical that the site-and stagespecific roles of endogenous cholesterol synthesis in the embryo be fully investigated to determine the pathophysiology of these disorders. Raine et al [1989], Kingston et al [1991], Kan and Kozlowski [1992], and Al Mane et al [1996], respectively. …”