Craniosynostosis-Radial Aplasia: Baller-Gerold Syndrome

Abstract

The syndrome of craniosynostosis and radial aplasia was first described by Baller in 19501 and Gerold in 1959.2 Greitzer et al3 subsequently described a fourth patient in 1974 with similar findings. The purpose of this report is to describe the findings in two additional cases that further delineate this syndrome. Report of Cases.\p=m-\Case1.\p=m-\Amale infant ( Figure) was the second child born to normal nonconsanguineous parents. The first pregnancy resulted in a normal infant. The patient was referred to the Mount Sinai School of Medicine, New York, at 5 weeks of age for evaluation of multiple congenital anomalies. His birth weight was 1.7 kg (< third percentile). Examination showed ridging of the lambdoid sutures and widely separated sagittal and metopic sutures with a large triangular anterior fontanel. The orbits were shallow thus causing a prominent proptosis. The ears were low set with a folded helix. He had a wide nasal bridge, anteverted nostrils, small downturned lips, and a high arched palate. Limb abnormalities consisted of bilateral absent thumbs, and absent radius and dysplastic ulna on the left, a hypoplas¬ tic radius and bowed ulna on the right, and contractures of both elbows. In addition, he had metatarsus adductus and clinodactyly of the second and fifth digits. Dermatoglyphic examination showed simian creases and a bilateral t' axial triradius.The anus was anteriorly placed.Findings from routine laboratory stud¬ ies including urinalysis, blood count, serum chemistries, plasma and urinary amino acids, and ECG were normal. Intravenous pyelogram showed one pelvic kidney and one kidney in normal position, both with normal dye excretion. Computerized axial tomography of the head demonstrated a normal ventricular system. Chromosomal analysis of cultured peripheral lympho¬ cytes from the patient and his parents revealed no abnormalities by Q, G and R banding techniques.The patient underwent a subtotal calvariectomy at 8 weeks of age. Special splints were devised to decrease elbow contracture and radial deviation at the wrist. At 5 months of age, the child was developmentally normal. However, his height and weight were below the third percentile.Case 2.-This 3-year-old female child was referred to the Center for Genetic Counsel¬ ing at the Boston Floating Hospital for Infants and Children because of coronal synostosis and limb deformities. Her moth¬ er was a 28-year-old gravida 1, para 1 and her father was 30 years old. The mother was diagnosed as having diabetes mellitus in 1967 and has been taking insulin. In the eighth month of pregnancy, preeclampsia was diagnosed in the mother. Delivery was by cesarean section be¬ cause of apparent cephalopelvic dispropor¬ tion. Birth weight was 2.2 kg. At birth, an absent radius was noted on the left, the humérus was hypoplastic, and there were only three metacarpale and two phalanges. On the right, there was considerable hypo¬ plasia of the radius with a curved ulna and an absent thumb. She also had coronal synostosis and a cardiac mumur that was subsequentl...

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

“…The patient's sister was born with similar malformations and died during infancy. Since then other case reports have extended the diagnosis of Baller-Gerold syndrome to in-clude multiple additional anomalies, such as anal anomalies including imperforate anus or anteriorly positioned anus [Greitzer et al, 1974;Feingold et al, 1979;Anyane-Yeboa et al, 1980;Boudreaux et al, 1990;Dallapiccola et al, 1992;van Maldergem et al, 1992;Lin et al, 1993], cardiac anomalies including ventricular septum defect and tetralogy of Fallot [Greitzer et al, 1974;Lin et al, 1993], and CNS abnormalities, such as polymicrogyria, hydrocephalus, agenesis of the corpus callosum or seizure disorders [Greitzer et al, 1974;Feingold et al, 1979;Pelias et al, 1981;Boudreaux et al, 1990;Dallapiccola et al, 1992;Dunac et al, 1995]. Of particular interest to the delineation of Baller-Gerold syndrome are numerous reports showing overlap with other congenital malformation syndromes and an association.…”

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

“…3 A limited number of additional patients have been reported since then. [5][6][7][8][9][10][11][12] Clinical overlap with other syndromes became more obvious when clinical diagnoses of BGS were subsequently challenged by cytogenetic or molecular tests that revealed a diagnosis of Fanconi anaemia, [13][14][15][16][17][18] Roberts SC syndrome, 19 or Saethre-Chotzen (OMIM 101400) syndrome. TWIST mutations are found in the latter condition and are usually associated with a broad fingers-receding forehead craniosynostosis phenotype, but anecdotal patients may also display radial hypoplasia.…”

Further delineation of the Baller‐Gerold syndrome

“…Twenty cases of Baller-Gerold syndrome have been reported [Baller, 1950;Gerold, 1959;Greitzer et al, 1974;Temtamy and McKusick, 1978;Feingold et al, 1979;Anyane-Yeboa et al, 1980;Woon et al, 1980;Pelias et al, 1981;Arena and Carlin, 1988;Boudreaux et al, 1990;Galea and Tolmie, 1990;Lewis et al, 1991;Dallapiccola et al, 19921 (Table I). This number excludes one patient with craniosynostosis and radial anomalies who had premature centromere separation characteristic of Roberts syndrome [Huson et al, 19901.…”