Further delineation of the Baller‐Gerold syndrome

Abstract

Three new patients with the Baller-Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, cardiac, central nervous system, and vertebral defects. Autosomal recessive inheritance is supported by the presence of affected sibs and parental consanguinity.

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

“…An entire community of cerebro-cardio-radio-renorectal syndromes can be delineated. Autosomal recessive Baller-Gerold syndrome [Lin et al, 1993], supposedly autosomal recessive XK-aprosencephaly [Kim et al, 1990] and autosomal dominant Steinfeld syndrome [Nöthen et al, 1993], may fit into this community as well as David-O'Callaghan and von Voss-Cherstvoy syndromes. As a rule, the nosologic diagnosis of other entities which fit into the cerebro-cardio-radio-renorectal community is not so difficult (Table IV).…”

“…Although all of these syndromes share some common malformations, the anal and renal defects in BallerGerold, Steinfeld, and XK-aprosencephaly syndromes are less frequent, and so far no reported patient with these forms had tracheo-esophageal or duodenal abnormalities. [Lin et al, 1993] and some additional publications Reichenbach et al, 1993;Van Maldergem et al, 1992] were used for the calculations for the Baller-Gerold syndrome. The data about XK-aprosencephaly syndrome were taken from Townes et al [1988], Kim et al [1990], and Pauli [1992].…”

Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature

“…Among the most frequently found are: anal defects (41%), imperforate anus in 7 cases and anteriorly displaced anus in 3; urogenital defects (23%), 5 patients had kidney anomalies (two had a single kidney, two kidney ectopia and one hydronephrosis); cardiac defects (23%), 2 patients had ventricular septal defect [6,11], 2 had tetralogy of Fallot [12] and 1 case with subaortic valvular hypertrophy [9]; CNS defects (23%), 2 patients had polymicrogyria, 2 hydrocephalus and 1 agenesis of the corpus callosum, 2 patients had seizures with no CNS anatomical defect. Seven patients (32%) had fistulae affecting structures in th lower pelvis and perineal area (three perineal, two recto-vaginal and two enterovesical), another 2 patients had common cloaca [11,12]. One of the female patients had no uterus [12].…”

“…Since the first description, in 1950, by Baller [3] and subsequently by Gerold [8], only 21 cases of Baller-Gerold syndrome (BGS) (craniosynostosis-radial aplasia syndrome) have been reported in the western literature [12]. The syndrome, of presumably autosomal recessive inheritance, is characterized by the presence of craniosynostosis and preaxial limb anomalies, ranging from unilateral thumb or radial hypoplasia to bilateral absence of the radii and thumbs [12].…”

“…The syndrome, of presumably autosomal recessive inheritance, is characterized by the presence of craniosynostosis and preaxial limb anomalies, ranging from unilateral thumb or radial hypoplasia to bilateral absence of the radii and thumbs [12]. Other manifestations of the syndrome include anomalies of the gastro-intestinal system (the most common), heart, kidney, central nervous system and skeleton.…”