drome and blepharo-chelio-dontic (BCD) syndrome include the aberrant growthof eyelashes from themeibomianglands, known asdistichiasis. LD is anautosomaldominant syndromeprimarily characterized by distichiasis and the onset of lymphedema usually during puberty. Mutations in the forkhead transcription factor FOXC2 are the only known cause of LD. BCD syndrome consists of autosomal dominant abnormalities of the eyelid, lip, and teeth, and the etiology remains unknown. In this report, we describe a proband that presented with distichiasis, microceph-aly, bilateral grade IV vesicoureteral reflux requiring ureteral re-implantation, mild intellectual impairment and apparent glomuvenous malformations (GVM). Distichiasis was present in three generati...
We report on two male and two female rela-tives with intestinal lymphangiectasia; severe lymphedema ...
Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, c...
Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphede...
Two hereditary syndromes, lymphedema‐distichiasis (LD) syndrome and blepharo‐chelio‐dontic (BCD) syn...
We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies...
Background-Hereditary lymphoedema-distichiasis (LD) is an autosomal dominant disorder that classical...
6noPurpose: Lymphedema-Distichiasis (LD, OMIM 153400) is an autosomal dominant disorder with variabl...
International audienceTwo distinct syndromes arise from pathogenic variants in the X-linked gene BCO...
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by...
Laurence Moon-Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder that mainly affec...
Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate...
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) (MIM#110100) is an autosomal dominant ge...
Microcephalylymphedemachorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first des...
Item does not contain fulltextWe report on 11 patients from 8 families with a blepharophimosis and m...
SummaryLymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at o...
We report on two male and two female rela-tives with intestinal lymphangiectasia; severe lymphedema ...
Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, c...
Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphede...
Two hereditary syndromes, lymphedema‐distichiasis (LD) syndrome and blepharo‐chelio‐dontic (BCD) syn...
We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies...
Background-Hereditary lymphoedema-distichiasis (LD) is an autosomal dominant disorder that classical...
6noPurpose: Lymphedema-Distichiasis (LD, OMIM 153400) is an autosomal dominant disorder with variabl...
International audienceTwo distinct syndromes arise from pathogenic variants in the X-linked gene BCO...
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by...
Laurence Moon-Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder that mainly affec...
Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate...
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) (MIM#110100) is an autosomal dominant ge...
Microcephalylymphedemachorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first des...
Item does not contain fulltextWe report on 11 patients from 8 families with a blepharophimosis and m...
SummaryLymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at o...
We report on two male and two female rela-tives with intestinal lymphangiectasia; severe lymphedema ...
Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, c...
Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphede...