Abstract
We describe a boy with the hypertelorism-hypospadias (BBB) syndrome. His mother and his maternal grandmother showed minor manifestations suggestive of the syndrome. The BBB syndrome is a syndrome of multiple congenital anomalies with mental retardation due a segregating mendelian mutation, either X-linked or autosomal. This paper reviews the literature on the subject and emphasizes the problem of identifying females at high risk of transmitting the condition.
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Cascos, A. S.: Genetics of atrial septal defect. Arch. Dis. Child. 47, 581–588 (1972)
Christian, J. C., Bixler, D., Blythe, S. C., Merritt, A. D.: Familial telecanthus with associated congenital anomalies. The Clinical Delineation of Birth Defects. II: Malformation Syndromes. Birth Defects Original Article Series V/2, 82–85 (1969)
Coccia, C. T.: A study of the hereditary basis of cleft lip and cleft palate. Master's Thesis, Indiana University School of Dentistry, Indianapolis 1966
Feingold, M., Bossert, W. H.: Normal values for selected physical parameters: an aid to syndrome delineation. Birth Defects Original Article Series X/13, 1–15 (1974)
Günther, H.: Konstitutionelle Anomalien des Augenabstandes und der Interorbitalbreite. Virchows Arch. path. Anat. 290, 373–384 (1933)
Jöhr, P.: Valeurs moyennes et limites normales en fonction de l'âge de quelques mésures de la tête et de la région orbitaire. J. Génét. hum. 2, 247–282 (1953)
Michaelis, E., Mortier, W.: Association of hypertelorism and hypospadias—the BBB syndrome. Helv. Paediat. Acta 27, 575–581 (1972)
Morin, J. D., Hill, J. C., Anderson, J. E., Grainger, R. M.: A study of growth in the interorbital region. Amer. J. Ophthal. 56, 895–901 (1963)
Nellhaus, G.: Head circumferences from birth to eighteen years. Practical composite international and interracial graphs. Pediatrics 41, 106–114 (1968)
Opitz, J. M., Summitt, R. L., Smith, D. W.: The BBB syndrome. Familial telecanthus with associated congenital anomalies. The Clinical Delineation of Birth Defects. II. Malformation Syndromes. Birth Defects Original Article Series V/2, 86–94 (1969)
Summitt, R. L., Wilroy, R. S., Jr.: Further studies of the telecanthus-hypospadias syndrome. Pediat. Res. 8, (Program and Abstracts) 442/168 (1974)
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Supported by Grant 75/0186 from FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo), São Paulo, Brazil
Supported by DHEW/PHS Grant GM 20 130 from the National Institute of General Medical Sciences. Paper No. 2055 from the University of Wisconsin Laboratory of Genetics
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Gonzalez, C.H., Herrmann, J. & Opitz, J.M. Studies of malformation syndromes of man VB: The hypertelorism-hypospadias (BBB) syndrome. Eur J Pediatr 125, 1–13 (1977). https://doi.org/10.1007/BF00470600
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DOI: https://doi.org/10.1007/BF00470600