Short rib‐polydactyly syndrome, Majewski type

Abstract

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition.

A new short rib syndrome: Report of two cases

“…Further typical cases not listed in that article were reported by Bergstrom et al [1979] and Chen et al [1980]. The three remaining cases listed by Cherstvoy et a1 [1980] as examples of SRP 2 were either atypical in some regard or did not include radiographic documentation.…”

“…The SRP syndromes (type 1: Saldino-Noonan syndrome; type 2: Majewski syndrome; and type 3: Verma-Naumoff syndrome) have been reviewed by Spranger et a1 [1974a] and Yang et a1 [1980]. Besides short ribs, preaxial and/or postaxial polydactyly has been present in published patients with these disorders.…”

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral–facial–digital syndrome type IV?

“…In this fetus the radiographic appearance of the tibiae is characteristic of the Majewski type short rib polydactyly syndrome (type 11) [Chen et al, 1980;Cooper and Hall, 1982;Bernstein et al, 19851, but the rib abnormalities are not typical. The bone histology is consistent with either a short-rib polydactyly syndrome, an oral-facial-digital syndrome or an overlap between the two.…”

Prenatal sonographic diagnosis of short rib-polydactyly syndrome type II, Majewski type

“…[4][5][6][7][8][9][10][11][12][13] The sonographic appearance of all three includes short ribs, narrow thorax, hypoplastic lungs, ambiguous genitalia, and polydactyly. 4-t3 Type I SRPS (Saldino-Noonan's syndrome) was first described in 1972.…”

“…The provisional zone of calcification of the bones is virtually absent in these cases. 8 Type III SRPS was reported by Naumoff and colleagues in 1977 and differs from type II in that it is not characterized by a medical deft lip and, unlike the case in Majewski's syndrome, infants with type III SRPS have hypoplastic vertebral bodies.9.n Although the micromelia is similar to that in type I, the difference involves a widened metaphysis with marginal spurs as compared to the pointed metaphyses seen in type I. Fetuses with type III SRPS also frequently have renal disease.9,ll Although three cases of Majewski syndrome have been identified sonographicaUy, all of these were in families with previously affected children. "-6 In each case, the diagnosis was made because of short limbs identified in a fetus with a family history of this syndrome.…”