Lacrimoauriculodentodigital Syndrome with Cleft Lip/Palate and Renal Manifestations

Abstract

The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in LADD syndrome patients and that the distinction of LADD syndrome from ectrodactyly-ectodermal dysplasia and clefting syndrome by the absence of clefting may need to be reconsidered.

Uterine structural anomalies and arthrogryposis—death of an urban legend

“…It is important to point out that there are several familial forms of uterine structural abnormalities as well as the inherited combination of uterine and urinary tract structural anomalies [Nykiforuk, 1938;Polishuk and Ron, 1974;Kurtz et al, 1980;Biedel et al, 1984;Stone et al, 2000;Cho et al, 2005;Uliana et al, 2008] in which fetal deformation might be expected to occur secondary to maternal uterine constraint. As well, there are syndromes and chromosomal anomalies in which uterine structural anomalies are known to occur [Shanks, 1956;Reece et al, 1982;Stone et al, 2000;Puvabanditsin et al, 2003;Ramirez and Lammer, 2004;Cho et al, 2005;Forzano et al, 2005;Mohan et al, 2006;Uliana et al, 2008]. Two of the 33 cases in this series have a history suggestive of a genetic form of uterine anomaly in mother.…”

Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome

“…Several case reports of EEC syndrome have been published,[4–6] most of them pertaining to the dermatological, urogenital, and dental manifestations of EEC syndrome. The periodontal manifestations in EEC syndrome patients have never been focused in literature so far.…”

“…Several case reports[4–6] of EEC syndrome has been published pertaining to the dermatological, urogenital, and dental/oral manifestations of EEC syndrome. Oral manifestations of patients with EEC syndrome reported so far include cleft lip or palate, cleft palate alone, hypodontia, microdontia, anodontia, xerostomia contributing to high caries rate with dry granulomatous lesions on lips, and parotid duct atresia.…”

Orofacial manifestations of the Levy-Hollister syndrome

“…It is an autosomal dominant disorder characterized by a variety of local and systemic signs and symptoms because of different phenotypes 3,4 . It is a rare syndrome, as only about 30 cases have been described in the pediatric and genetic literature 5 ; until now, less than 60 cases have been observed worldwide 6 .…”

“…The global nondental literature includes references to "misshapen teeth" [16][17][18] . These anomalies include hypodontia, microdontia, cone-shaped teeth, and enamel hypoplasia [5][6][7]12,19 . Hollister et al suggest that the enamel dysplasia observed in both dentitions is a form of amelogenesis imperfecta, which is a hereditary disorder 2,20 .…”