On the symmetry of limb deficiencies among children with multiple congenital anomalies

C. Stoll et al., On the symmetry of limb deficiencies among children with multiple congenital anomalies, ANN GENET, 44(1), 2001, pp. 19-24
Citations number
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ISSN journal
0003-3995 → ACNP
Year of publication
19 - 24
SICI code
In humans, unpaired organs are placed in a highly ordered pattern along the left-right axis. As indicated by animal studies, a cascade of signaling mo lecules establish left-right asymmetry in the developing embryo. Some of th e same genes are involved also in limb patterning. To provide a better insi ght into the connection between these processes in humans, we analysed the symmetry of limb deficiencies among infants with multiple congenital anomal ies. The study was based on data collected by the International Clearinghou se for Birth Defects Monitoring Systems (ICBDMS). Registries of the ICBDMS provided information on infants who, in addition to a limb deficiency, also had at least one major congenital anomaly in other organ systems. We revie wed 815 such cases of which 149 cases (18.3 %) were syndromic and 666 (81.7 %) were nonsyndromic. The comparisons were made within the associated limb deficiencies, considering the information on symmetry, using a comparison group with malformations associated not involved in the index association. Among the non-syndromic cases, the left-right distribution of limb deficien cies did not differ appreciably between limb deficiency subtypes (e.g., pre axial, transverse, longitudinal). The left-right distribution of limb anoma lies did not differ among most types of non-limb anomalies, though a predom inance of left-sided limb deficiencies was observed in the presence of seve re genital defects - odds ratio [OR], 2.6; 95 % CI, 1.1-6.4). Limb deficien cies (LDs) were more often unilateral than bilateral when accompanied by ga stroschisis (OR, 0.1) or axial skeletal defects (OR, 0.5). On the contrary, LDs were more often bilateral than unilateral when associated with cleft l ip with or without cleft palate (OR, 3.9) or micrognathia (OR, 2.6). Specif ically, we found an association between bilateral preaxial deficiencies and cleft lip, bilateral amelia with gastroschisis and urinary tract anomalies , and bilateral transverse deficiencies and gastroschisis and axial skeleto n defects. Of 149 syndromic cases, 62 (41.6 %) were diagnosed as trisomy 18 . Out of the 30 cases of trisomy 18 with known laterality, 20 cases were bi lateral. In the remainder the right and left sides were equally affected. A lso, in most cases (74.4 %) only the upper limbs were involved. In conclusi on the left-right distribution of limb deficiencies among some non-limb ano malies may suggest a relationship between the development of the limb and t he left-right axis of the embryo. (C) 2001 Editions scientifiques et medica les Elsevier SAS.