Unusual short rib‐polydactyly syndrome

Abstract

We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To OUT knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS. O 1992 Wiiey-Lisa, Inc.

Short rib‐polydactyly syndrome: more evidence of a continuous spectrum

“…This case exemplifies the difficulty in classification of selected cases of SRPS to one of the four established forms ( Table 1). Our patient had manifestations that are considered to be diagnostic for more than one form, similar to a case reported by Tsai et al [6]. Hypoplastic scapulae, small iliac bones with medial spurring of the tridiate cartilage, and deficiency in ossification of metacarpals, metatarsals, and phalanges were present, as seen in the Saldino–Noonan type.…”

“…All forms of the SRPS described to date are thought to be inherited in an autosomal recessive pattern. There are difficulties in the classification of these disorders because of the frequent phenotypic overlap [6,7]. There is controversy, however, as to whether this is due to variable expression or to genetic heterogeneity [8,9].…”

Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia

“…Published reports disclose complete situs inversus in five patients with transitional syndromes [Fraser et al, 1989;Brueton et al, 1990;Tsai et al, 1992; , 1994], in four with lethal SRP syndromes, mainly type III [Belloni and Beluffi, 1981;Bernstein et al, 1985;de Sierra et al, 1992], in one with EVC syndrome [Donlan et al, 1969], and in one with Jeune syndrome [Majewski et al, 1996]. The clinical spectrum of continuity in SRP syndromes is corroborated by the identification of the cardiac phenotype showing transition from AVCD and common atrium in EVC syndrome to complete situs inversus in Jeune and lethal SRP syndromes.…”

Short rib‐polydactyly syndrome in twins: Beemer‐Langer type with poly dactyly

“…Preaxial polydactyly was found in 50% of affected siblings, cleft lip (83%), oral abnormalities such as cleft tongue, oral frenula and/or natal teeth, were also typical (40%) (Lurie 1994). Brain abnormalities are common, especially of midline fore and hindbrain derivatives (>60%) (Brenner et al 1993, Cideciyan et al 1993, Hennekam 1991, Hingorani et al 1991, Lin et al 1991, Martinez-Frias et al 1993a, Tsai et al 1992, Yang et al 1991. It has been proposed that a single gene defect, affecting the midline of the neural plate or early neural tube, may be responsible for all of the brain defects seen, and that the gene product(s) may be involved in the early development of many systems (Lurie 1994).…”