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 combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc
Brothers were affected with severe congenital contractures, multiple cutaneous manifesta-tions of ec...
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by muta...
Background: A family case report of cleidocranial dysplasia (CCD) with varied manifestations from fa...
We describe affected individuals in three generations of a family and another sporadic case, all Bra...
drome and blepharo-chelio-dontic (BCD) syndrome include the aberrant growthof eyelashes from themeib...
Cleidocranial Dysplasia (CCD) is a rare autosomal dominant syndrome that occurs in approximate...
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by...
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BM...
We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrom...
PURPOSE: To describe the previously unreported managed ment of the eyelid anomalies associated with ...
We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, t...
We report on 2 unrelated Indian girls with blepharophimosis; arachnodactyly; digital contractures wh...
International audienceTwo distinct syndromes arise from pathogenic variants in the X-linked gene BCO...
Branchio-oculo-facial syndrome represents a craniofacial disorder in which affected patients may dev...
Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, char...
Brothers were affected with severe congenital contractures, multiple cutaneous manifesta-tions of ec...
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by muta...
Background: A family case report of cleidocranial dysplasia (CCD) with varied manifestations from fa...
We describe affected individuals in three generations of a family and another sporadic case, all Bra...
drome and blepharo-chelio-dontic (BCD) syndrome include the aberrant growthof eyelashes from themeib...
Cleidocranial Dysplasia (CCD) is a rare autosomal dominant syndrome that occurs in approximate...
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by...
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BM...
We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrom...
PURPOSE: To describe the previously unreported managed ment of the eyelid anomalies associated with ...
We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, t...
We report on 2 unrelated Indian girls with blepharophimosis; arachnodactyly; digital contractures wh...
International audienceTwo distinct syndromes arise from pathogenic variants in the X-linked gene BCO...
Branchio-oculo-facial syndrome represents a craniofacial disorder in which affected patients may dev...
Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, char...
Brothers were affected with severe congenital contractures, multiple cutaneous manifesta-tions of ec...
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by muta...
Background: A family case report of cleidocranial dysplasia (CCD) with varied manifestations from fa...