Concordant Congenital Spine Deformity in Monozygotic Twins

Ba, Akbarnia; Heydarian, K; Ms, Ganjavian

doi:10.1097/01241398-198309000-00016

Cited by 10 publications

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“…The present study confirms this association between NTD and congenital scoliosis, with a sib risk for NTD of 4% which would merit consideration of prenatal diagnosis in a future pregnancy. Further, in the present study, the risk was also apparent in families where the proband had only one or 2 malformed vertebrae, this difference might reflect the inclusion in the isolated anomaly group of Wynne-Davies Multifactorial inheritance of NTD is generally accepted and is supported for congenital scoliosis by concordance of 3 of 8 sets of reported monozygotic twins [Haffner, 1936;Peterson and Peterson, 1967;Hattaway, 1977;Ogden and Southwick, 1978;Akbarnia et al, 1983;Pool, 19861. If multifactorial inheritance operates in both conditions, then the etiological relationship from sib risk would imply common genetic or environmental predisposing factors.…”

Section: Discussionmentioning

confidence: 50%

Genetic aspects of early chiidhood scoliosis

et al. 1987

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Eighty-seven families with early onset scoliosis were evaluated. These were divided into 3 groups: resolving infantile idiopathic scoliosis (15 families), progressive infantile idiopathic scoliosis (21 families), and congenital scoliosis due to vertebral malformations (51 families). The children with congenital scoliosis were subdivided into those who had closed neural arch defects (19 families) and those who did not (32 families). Resolving infantile idiopathic scoliosis was usually associated with plagiocephaly, and both deformations tended to show spontaneous recovery. These children were otherwise normal. Seven (33%) of the children with progressive infantile idiopathic scoliosis were mentally retarded, but only 2 had a congenital malformation. In contrast, 18 (33%) of the children with congenital scoliosis had other malformations, but only 2 were mentally retarded. The recurrence risk for scoliosis was low in each group studied. However, there was an increased risk (4% for sibs) of neural tube defects in the families with congenital scoliosis (with or without neural arch defects). This sib risk was apparent for probands with only a single hemivertebrum in addition to probands with more extensive vertebral defects and would support an etiological relationship between neural tube defects and other vertebral malformations.

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