Lacrimo-auriculo-dento-digital syndrome

Abstract

We report a healthy 18-year-old male Saudi with bilateral agenesis of the lacrimal puncta and canaliculi associated with large dacryocystocele on the right side without tearing or inflammation, detected in conjunction with other characteristic features of lacrimo-auriculo-dento-digital dysplasia syndrome. Computed tomography scan indicated that dacryocystoceles were bilateral and asymmetrical, with large dimensions at the right side and associated to a right side maxillary sinus mucocele. The right dacryocystocele was surgically removed, and the histology indicated characteristics of the lacrimal sac. The liquid content of the dacryocystocele was negative for microbes. The atypical mucocele in the maxillary sinus disappeared after dacryocystocele removal probably, due to recovery of sinus drainage.

CATSHL syndrome, a new family and phenotypic expansion

“…Moreover, we observed novel clinical features (peg‐shaped incisors and renal anomalies; Table 1). These features are quite distinct from those reported in CATSHL syndrome to date but are classically described in LADD syndrome 7–10 . LADD syndrome is a rare disorder, with less than 70 cases reported in the literature, caused by monoallelic pathogenic variants in encoding fibroblast growth factor receptors 2 ( FGFR2 ), 3 ( FGFR3 ), or 10 ( FGF10 ) genes.…”

“…These features are quite distinct from those reported in CATSHL syndrome to date but are classically described in LADD syndrome. [7][8][9][10] LADD syndrome is a rare disorder, with less than 70 cases reported in the literature, caused by monoallelic pathogenic variants in encoding fibroblast growth factor receptors 2 (FGFR2), 3 (FGFR3), or 10 (FGF10) genes. LADD syndrome is characterized by aplasia, hypoplasia or atresia of the lacrimal and salivary ducts, hearing loss, dental anomalies such as peg-shaped incisors, long thin-rooted teeth, malformed molars, microdontia or…”