Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome

We report on a pair of monozygotic twins with probable Baller‐Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a si...

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Published in:	American journal of medical genetics Vol. 80; no. 4; pp. 303 - 308
Main Authors:	Franceschini, Piergiorgio, Licata, Domenico, Guala, Andrea, Di Cara, Giuseppe, Signorile, Federico, Franceschini, Daniele, Genitori, Lorenzo, Restagno, Gabriella
Format:	Journal Article
Language:	English
Published:	New York John Wiley & Sons, Inc 04.12.1998 Wiley-Liss
Subjects:	Adult Baller-Gerold syndrome Biological and medical sciences Craniosynostoses - pathology Diseases of the osteoarticular system elongated first metacarpal Female fifth-finger brachymesophalangy Fingers - abnormalities Humans Infant, Newborn Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences metacarpophalangeal profile Metacarpus - abnormalities monozygotic twins Radius - abnormalities Syndrome Twins, Monozygotic Human Hypoplasia Radius Nervous system diseases Craniosynostosis Diseases of the osteoarticular system Metacarpophalangeal Dysostosis Exploration Infant Gene expression Congenital disease Case study Metacarpal bone Concomitant disease Phenotype Aplasia Baller Gerold syndrome Disease of the hand Malformation Skull disease Upper limb Diagnosis Monozygotic twin
ISSN:	0148-7299, 1096-8628
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Abstract	We report on a pair of monozygotic twins with probable Baller‐Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects. Am. J. Med. Genet. 80:303–308, 1998. © 1998 Wiley‐Liss, Inc.
AbstractList	We report on a pair of monozygotic twins with probable Baller‐Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects. Am. J. Med. Genet. 80:303–308, 1998. © 1998 Wiley‐Liss, Inc. We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects. We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.
Author	Signorile, Federico Di Cara, Giuseppe Licata, Domenico Genitori, Lorenzo Restagno, Gabriella Franceschini, Daniele Franceschini, Piergiorgio Guala, Andrea
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Keywords	Human Hypoplasia Radius Nervous system diseases Craniosynostosis Diseases of the osteoarticular system Metacarpophalangeal Dysostosis Exploration Infant Gene expression Congenital disease Case study Metacarpal bone Concomitant disease Phenotype Aplasia Baller Gerold syndrome Disease of the hand Malformation Skull disease Upper limb Diagnosis Monozygotic twin
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References	Arena JFP, Carlin ME (1989): A further delineation of Baller-Gerold syndrome (abstract). Am J Med Genet 34:135. Barber MD, Percy RC, Andersen JF, Parkin BH (1995): Structural variation of novel alleles at the Hum VWA and Hum FES/FSP short tandem repeat loci. Int J Legal Med 108:31-35. Woon K-C, Kokich VG, Clarren SK, Cohen MM Jr (1980): Craniosynostosis with associated cranial base anomalies: A morphologic and histologic study of affected like-sexed twins. Teratology 22:23-35. Genitori L, Zanon N, Denis D, Erdincles P, Achouri M, Lena G, Choux M (1994): The skull base in plagiocephaly. Childs Nerv Syst 10:217-223. Ramos Fuentes FJ, Nicholson L, Scott CI Jr (1994): Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature. Eur J Pediatr 153:483-487. Feingold M, Sklower SL, Willner JP, Desnick RH, Cohen MM (1979): Craniosynostosis-radial aplasia: Baller-Gerold syndrome. Am J Dis Child 133:1279-1280. Pelias MZ, Superneau DW, Thurmon TF (1981): A sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. Am J Med Genet 10:133-139. Van Maldergem L, Verloes A, Lejeune L, Gillerot Y (1992): The Baller-Gerold syndrome. J Med Genet 29:266-268. Greitzer LJ, Jones KL, Schnall BS, Smith DW (1974): Craniosynostosis-radial aplasia syndrome. J Pediatr 84:723-724. Lewis MES, Rosenbaum PL, Paes BA (1991): Baller-Gerold syndrome associated with congenital hydrocephalus. Am J Med Genet 40:307-310. Galea P, Tolmie JL (1990): Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). J Med Genet 27:784-787. Dallapiccola B, Zelante L, Mingarelli R, Pellegrino M, Bertozzi V (1992): Baller-Gerold syndrome: Case report and clinical and radiological review. Am J Med Genet 42:365-368. Boudreaux JM, Colon MA, Lorusso GD, Parro EA, Pelias MZ (1990): Baller-Gerold syndrome: An 11th case of craniosynostosis and radial aplasia. Am J Med Genet 37:447-450. Machin GA, Still K, Lalani T (1996): Correlations of placental vascular anatomy and clinical outcomes in 69 monochorionic twin pregnancies. Am J Med Genet 61:229-236. Baller F (1950): Radiusaplasie und Inzucht. Z Menschl Vererb Konstit-Lehre 29:782-790. Machin GA (1996): Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet 61:216-228. Gerold M (1959): Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen. Zentralbl Chir 84:831-834. Preis S, Majewski F, Körholz D, Göbel U (1995): Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. Clin Dysmorphol 4:161-168. Reichenbach H, Hormann D, Theile H (1993): Ein weiterer Fall mit Baller-Gerold-Syndrom: Überblick und neue Gesichtspunkte bei einem seltenen Syndrom. Kinderarztl Prax 61:161-167. Nwokoro NA, Jaffe R, Barmada M (1993): Baller-Gerold syndrome: A postmortem examination. Am J Med Genet 47:1233. Anyane-Yeboa K, Gunning L, Bloom AD (1980): Baller-Gerold syndrome. Craniosynostosis-radial aplasia syndrome. Clin Genet 17:161-166. Dunac A, Van Bogaert P, David P, Avni EF, Paduart O, Szliwowski HB, Van Regemorter N (1995): Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. Neuropediatrics 26:273-275. Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ (1993): Further delineation of the Baller-Gerold syndrome. Am J Med Genet 45:519-524. Urquart A, Kimpton CP, Downes TJ, Gill P (1994): Variation in short tandem repeat sequence-a survey of twelve microsatellite loci for use as forensic identification markers. Int J Legal Med 107:13-20. 1959; 84 1993; 47 1950; 29 1993; 45 1990; 37 1993; 61 1994; 153 1980; 22 1975; 11 1995; 4 1980; 17 1989; 34 1979; 133 1990 1990; 27 1974; 84 1995; 26 1995; 108 1991; 40 1996; 61 1992; 29 1992; 42 1994; 107 1981; 10 1994; 10 Dallapiccola (BIB8) 1992; 42 Machin (BIB17) 1996; 61 Bianchi (BIB5) 1990 Greitzer (BIB14) 1974; 84 Urquart (BIB24) 1994; 107 Barber (BIB4) 1995; 108 Ramos Fuentes (BIB22) 1994; 153 Anyane-Yeboa (BIB1) 1980; 17 Lewis (BIB15) 1991; 40 Cohen (BIB7) 1975; 11 Nwokoro (BIB19) 1993; 47 Boudreaux (BIB6) 1990; 37 Preis (BIB21) 1995; 4 Lin (BIB16) 1993; 45 Pelias (BIB20) 1981; 10 Van Maldergem (BIB25) 1992; 29 Woon (BIB26) 1980; 22 Feingold (BIB10) 1979; 133 Baller (BIB3) 1950; 29 Machin (BIB18) 1996; 61 Arena (BIB2) 1989; 34 Reichenbach (BIB23) 1993; 61 Dunac (BIB9) 1995; 26 Galea (BIB11) 1990; 27 Gerold (BIB13) 1959; 84 Genitori (BIB12) 1994; 10
References_xml	– reference: Feingold M, Sklower SL, Willner JP, Desnick RH, Cohen MM (1979): Craniosynostosis-radial aplasia: Baller-Gerold syndrome. Am J Dis Child 133:1279-1280. – reference: Dunac A, Van Bogaert P, David P, Avni EF, Paduart O, Szliwowski HB, Van Regemorter N (1995): Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. Neuropediatrics 26:273-275. – reference: Lewis MES, Rosenbaum PL, Paes BA (1991): Baller-Gerold syndrome associated with congenital hydrocephalus. Am J Med Genet 40:307-310. – reference: Machin GA, Still K, Lalani T (1996): Correlations of placental vascular anatomy and clinical outcomes in 69 monochorionic twin pregnancies. Am J Med Genet 61:229-236. – reference: Dallapiccola B, Zelante L, Mingarelli R, Pellegrino M, Bertozzi V (1992): Baller-Gerold syndrome: Case report and clinical and radiological review. Am J Med Genet 42:365-368. – reference: Woon K-C, Kokich VG, Clarren SK, Cohen MM Jr (1980): Craniosynostosis with associated cranial base anomalies: A morphologic and histologic study of affected like-sexed twins. Teratology 22:23-35. – reference: Pelias MZ, Superneau DW, Thurmon TF (1981): A sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. Am J Med Genet 10:133-139. – reference: Barber MD, Percy RC, Andersen JF, Parkin BH (1995): Structural variation of novel alleles at the Hum VWA and Hum FES/FSP short tandem repeat loci. Int J Legal Med 108:31-35. – reference: Nwokoro NA, Jaffe R, Barmada M (1993): Baller-Gerold syndrome: A postmortem examination. Am J Med Genet 47:1233. – reference: Arena JFP, Carlin ME (1989): A further delineation of Baller-Gerold syndrome (abstract). Am J Med Genet 34:135. – reference: Ramos Fuentes FJ, Nicholson L, Scott CI Jr (1994): Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature. Eur J Pediatr 153:483-487. – reference: Urquart A, Kimpton CP, Downes TJ, Gill P (1994): Variation in short tandem repeat sequence-a survey of twelve microsatellite loci for use as forensic identification markers. Int J Legal Med 107:13-20. – reference: Baller F (1950): Radiusaplasie und Inzucht. Z Menschl Vererb Konstit-Lehre 29:782-790. – reference: Greitzer LJ, Jones KL, Schnall BS, Smith DW (1974): Craniosynostosis-radial aplasia syndrome. J Pediatr 84:723-724. – reference: Preis S, Majewski F, Körholz D, Göbel U (1995): Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. Clin Dysmorphol 4:161-168. – reference: Anyane-Yeboa K, Gunning L, Bloom AD (1980): Baller-Gerold syndrome. Craniosynostosis-radial aplasia syndrome. Clin Genet 17:161-166. – reference: Machin GA (1996): Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet 61:216-228. – reference: Van Maldergem L, Verloes A, Lejeune L, Gillerot Y (1992): The Baller-Gerold syndrome. J Med Genet 29:266-268. – reference: Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ (1993): Further delineation of the Baller-Gerold syndrome. Am J Med Genet 45:519-524. – reference: Genitori L, Zanon N, Denis D, Erdincles P, Achouri M, Lena G, Choux M (1994): The skull base in plagiocephaly. Childs Nerv Syst 10:217-223. – reference: Reichenbach H, Hormann D, Theile H (1993): Ein weiterer Fall mit Baller-Gerold-Syndrom: Überblick und neue Gesichtspunkte bei einem seltenen Syndrom. Kinderarztl Prax 61:161-167. – reference: Boudreaux JM, Colon MA, Lorusso GD, Parro EA, Pelias MZ (1990): Baller-Gerold syndrome: An 11th case of craniosynostosis and radial aplasia. Am J Med Genet 37:447-450. – reference: Galea P, Tolmie JL (1990): Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). J Med Genet 27:784-787. – reference: Gerold M (1959): Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen. 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Snippet	We report on a pair of monozygotic twins with probable Baller‐Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar... We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar...
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SubjectTerms	Adult Baller-Gerold syndrome Biological and medical sciences Craniosynostoses - pathology Diseases of the osteoarticular system elongated first metacarpal Female fifth-finger brachymesophalangy Fingers - abnormalities Humans Infant, Newborn Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences metacarpophalangeal profile Metacarpus - abnormalities monozygotic twins Radius - abnormalities Syndrome Twins, Monozygotic
Title	Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome
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