𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients

✍ Scribed by Vald�z-de la Torre, Ma. Hortensia; Quintana-Garc�a, M�nica; Can�n, Sonia


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
13 KB
Volume
85
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990716)85:2<157::aid-ajmg10>3.0.co;2-a

No coin nor oath required. For personal study only.

✦ Synopsis


The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo-cheilo-dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. Ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/ palate in two generations, probably as a variable expression of an autosomal dominant gene. Am.


📜 SIMILAR VOLUMES


Blepharo-cheilo-dontic (BCD) syndrome: R
✍ Guion-Almeida, M.L.; Rodini, E.S.O.; Kokitsu-Nakata, N.M.; Bologna-Amantini, D. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia. Two were sporadic cases and two were familial cases, a mother and her equally affected son. Recently, the reports with different com

Frequency of Y chromosomal material in M
✍ L�pez, Marisol; Canto, Patricia; Aguinaga, M�nica; Torres, Leda; Cervantes, Alic 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has de

Karsch-Neugebauer syndrome in two sibs w
✍ Wong, S.C. ;Cobben, J.M. ;Hiemstra, S. ;Robinson, P.H. ;Heeg, M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

We report on 2 sisters with Karsch-Neugebauer syndrome comprising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder. Although genetic heterogeneity can not be formal

Bladder carcinoma in Costello syndrome:
✍ Franceschini, P.; Licata, D.; Di Cara, G.; Guala, A.; Bianchi, M.; Ingrosso, G.; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 56 KB 👁 2 views

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Cost

Duplication 6q21q23 in two unrelated pat
✍ Pratt, V.M.; Roberson, J.R.; Weiss, L.; Van Dyke, D.L. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 1 views

We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart de

Townes-Brocks and Pendred syndrome in th
✍ Yano, Shoji; Watanabe, Yoriko; Yoshino, Makoto; Aida, Katsumaro; Kato, Hirohisa 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 2 views

However, these patients did not have ear anomalies, anal lesions, or deafness suggestive of TBS or PS. Because PS is thought to be heterogeneous, the occurrence of the two syndromes together may constitute a contiguous gene syndrome in this particular case.