Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.

The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. In addition to the common components of BCD syndrome that involve eyelids, lip, and teeth abnormalities, this patient is the third reported BCD case with imperforate anus, the second with thyroid agenesis, and the first with lumbosacral meningomyelocele.

Surgical correction of congenital entropion in related Boer goat kids using a combination Hotz-Celsus and lateral eyelid wedge resection procedure.

Five related Boer goat kids (≤4 months of age) were presented to the University of Missouri, Veterinary Teaching Hospital (MU-VMTH) with epiphora and blepharospasm of several weeks duration and commencing prior to 1 month of age in all animals. Clinical examination confirmed euryblepharon and entropion bilaterally in two females and one male and unilaterally in two female kids. Deep stromal corneal ulceration was present in two eyes, and corneal granulation tissue and fibrosis were present in half (5/10) the affected eyes. A combination Hotz-Celsus and lateral eyelid wedge resection procedure was performed on all affected eyelids. Recheck examinations and long-term follow-up confirmed resolution of the entropion, preservation of normal eyelid conformation, and restoration of ocular comfort. Pedigree analysis ruled out sex-linked and autosomal dominant inheritance patterns; a specific mode of inheritance could not be determined. The Boer goat breed may be at increased risk for the development of entropion. This cases series represents the first report of entropion in the caprine species.

Congenital ectropion in Noonan syndrome.

Ten-year-old female patient, with facial dysmorphia, scoliosis, short stature, muscular hypotonia, patent foramen ovale and maturational delay, presented for correction of bilateral congenital ectropion. Ophthalmological examination revealed bilateral lower eyelid ectropion, euryblepharon and lagophthalmos, with a positive Bell's phenomenon. She was treated with full-thickness autologous skin grafts on the lower eyelids with bilateral lateral canthoplasty, resolving the ectropion and improving eyelid occlusion. Subsequently, a genetic study was performed that revealed a mutation in the PTPN11 gene and allowed, together with the clinical picture, to make the diagnosis of Noonan syndrome. Noonan syndrome is a multisystem genetic disorder with a wide variety of phenotypes, which usually presents with ocular and periocular disorders. Eyelid ectropion, a distinctive feature of this patient, is a rare ophthalmological manifestation of this syndrome that can be corrected with full-thickness skin graft and lateral canthoplasty.

Concurrent Presentation of Euryblepharon and Moyamoya Syndrome in Costello Syndrome: A Rare Clinical Case.

This case report provides a detailed examination of a rare co-occurrence of Costello syndrome, euryblepharon, and Moyamoya syndrome in a 14-year-old female. Costello syndrome, a rare genetic disorder characterized by developmental delays, distinctive facial characteristics, and a predisposition to certain malignancies, presents an array of ocular manifestations, including downward-slanting palpebral fissures. A significant similarity is noted with euryblepharon, a rare periocular anomaly marked by the downward slanting of the eyelids. Despite these striking resemblances, the association between euryblepharon and Costello syndrome is yet to be documented in the literature. Furthermore, the coexistence of Costello syndrome and Moyamoya syndrome, a cerebrovascular disorder, is exceedingly rare. This report provides an in-depth analysis of the patient's ocular and periocular manifestations, establishing a potential association of euryblepharon within the phenotypic spectrum of Costello syndrome and documenting the unusual co-occurrence with Moyamoya syndrome. These findings aim to augment our understanding of Costello syndrome's phenotypic variability and potential associations.