Abstract for presentation at 11th International Congress of Human Genetics

Purpose: To evaluate the incidence and patterns of associated anomalies in patients ascertained due to vertebral malformations.
Methods: Subjects with documented vertebral malformations (excluding isolated spina bifida or spina bifida occulta, known single gene or chromosomal disorders) were ascertained from general genetics and orthopedic clinics and through a computerized record review. Medical records including echocardiograms, radiographic studies, and clinical examinations were reviewed to assess the phenotype, specifically the presence or absence of additional congenital anomalies and/or recognizable malformation patterns.
Results: 30/63 (47.6%) had additional anomalies, the most frequent of which were cardiac (22%), external ear (16%), renal (13%), limb (11%), CNS (11%), anal (8%), eye (6%), tracheal (6%), and cleft lip/palate (5%). 15 subjects had recognizable patterns of malformation including Facioauriculovertebral spectrum (5), VACTERL (4), features of both FAVS and VACTERL (3) sacral agenesis/diabetic embryopathy (2) and Wildervanck (1). Eight had only one additional anomaly in addition to their costovertebral malformation. This group included 5 with either anal, renal or ear anomalies who might eventually fit criteria for VACTERL or FAVS, 2 with Klippel Feil plus CNS, and one with only ptosis and vertebral anomalies. Seven had 3 or more anomalies but did not fit a known pattern. This included 2 unrelated girls with an apparently new pattern including choanal atresia/stenosis, microcephaly, growth failure and minor facial anomalies.
Conclusions: About half of all patients ascertained for vertebral malformation have additional anomalies. This includes 24% with known patterns (VACTERL, FAVS, SA), 13% with exactly 2 anomalies, and 11% with unknown MCA syndromes. All patients with vertebral malformations should be thouroughly investigated for malformation in other systems, especially cardiac, ear, renal, limb, and CNS.