Overlap between Majewski and Hydrolethalus syndromes: A report of two cases

Abstract

We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes.

Short rib‐dysplasia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum

“…However, more and more subtypes are being de- scribed, some of them with overlapping clinical manifestations. [Bernstein et al, 1985;Munke et al, 1990;Hingorani et al, 1991;Sharma et al, 1992;Cideciyan et al, 1993;Martinez-Frias et al, 1993a, b;Bronstein et al, 19941. The malformation complex found in our patient appears to be an SR(P) syndrome sharing manifestations with Mohr, Majewski, Verma-Naumoff, Beemer, and Jeune syndromes (Table I).…”

Prenatal Ultrasound Findings in Hydrolethalus: Continuing Difficulties in Diagnosis

“…The short ribpolydactyly syndromes are a group of lethal autosomal recessive skeletal dysplasias. It may be difficult in some cases to distinguish the Majewski type of short rib-polydactyly from hydrolethalus (Sharma et al, 1992). Campomelic dysplasia is characterized by bowed tibia, hypoplastic scapulae, and often results in death in the neonatal period from respiratory insufficiency.…”

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?

“…Unlike our case, cystic structures and genital abnormalities were absent in both cases. Sharma et al [1992] described two unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, Majewski type. The findings were almost identical in both cases and consisted of marked hydrocephalus, agenesis of the corpus callosum, and intracranial cyst in the central nervous system; shortness of long bones, hypoplasia of tibiae, short horizontal ribs, and polydactyly in the skeletal system; and midline clefts of lip and palate, micrognathia, occipital bone defect, heart and lung defects, and genital anomalies.…”