A new short rib syndrome: Report of two cases

Abstract

We describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs. Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present. Comparison with earlier described short-rib/short-rib-polydactyly syndromes suggest that the disorder present in our two cases is a new type of short-rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real-time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short-rib syndrome may be an autosomal recessive disorder.

NEK1andDYNC2H1are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

“…For family 13, we were unable to screen DYNC2H1 due to insufficient amount of DNA and only NEK1 was excluded. The features of the five cases for which clinical details were available (table 1) were in agreement with previously reported SRP type IV cases,2 with the observation of various cerebral abnormalities (corpus callosum agenesis and cerebellar hypoplasia), intestinal malrotation, and heart defect.…”

“…Other features include cleft lip/palate, malformed epiglottis and larynx, renal cysts, genital, cardiac, and intestinal abnormalities 1. It is closely related to Beemer-Langer syndrome or SRP type IV (MIM 269860) which is distinguished by inconstant post-axial polydactyly, short and often bowed long bones especially in the upper limbs, shorter fibula, and high frequency of brain defects 2. Recently, mutations in NEK1 have been identified in three families with SRP type II, and compound heterozygosity for mutations in NEK1 and DYNC2H1 were found in one family supporting a possible diallelic digenic inheritance 3 .…”

Short rib syndrome Beemer‐Langer type with polydactyly: A multiple congenital anomalies syndrome

“…In short rib polydactyly syndrome (SRPS) Majewski type, polydactyly has been a constant feature to date; therefore, no parentheses are used. The eponymic nomenclature of SR(P)S Beemer-Langer type is preferred in this article since Dr. Langer, a co-author of the original article, was instrumental in recognizing and delineating this condition as an entity [Beemer et al, 19831. Six patients with the characteristic radiographic combination of skeletal abnormalities of the Beemer-Langer type have been documented [Beemer et al, 1983 (2 cases); Wladimiroff et a]., 1981 (1 case); Garcia et al, 1988 (1 case); Winter, 1988 (1 case); Chen et al, 1989 (1 Fig. 6.…”

Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome)

“…The SRPS types which overlap most are types 1 and 3 with similar clinical phenotypes. Type 3 is distinguished from type 1 by 50% male predominance, often no polydactyly, coarctation of the aorta, hypoplastic left and right side chambers of the heart, wide metaphyseal ends of the tubular bones, fan-shaped iliac bones and less severe radiologic manifestations [4,5,7,11,15,16] . Yang et al [17] reported that PAS-stained chondro-osseous cytoplasmic inclusions seen in type 3 were absent in type 1 SRPS.…”