Objective: To explore the clinical effect of combining medial and lateral canthoplasty with blepharoptosis correction at one-stage for congenital blepharophimosis syndrome.
Methods: From January 2002 to May 2006, 26 patients (52 sides) with congenital blepharophimosis syndrome were treated. There were 16 males and 10 females, aging from 3 to 35 years (mean 8.5 years). They were all bilateral blepharoptosis significantly. The palpebral muscle force was 0-3 mm; the transverse dimension and vertical dimension of the palpebral tissue were 13-22 mm and 2-4 mm; the intercanthal distance was 33-44 mm; the levator function was 1-3 mm.
Results: Twenty-six patients underwent medial canthoplasty and blepharoptosis correction of them. 12 patients were also given lateral canthoplasty at one-stage. The postoperative transverse dimension and vertical dimension of the palpebral tissue were 6-8 mm and 24-32 mm, respectively. The intercanthal distance was 29-34 mm. The levator function was 4-6 mm. The supratarsal fold in the upper lid was natural. With a follow up of 3 months to 4 years. all patients were satisfied with their results.
Conclusion: One-stage surgical treatment of combining medial and lateral canthoplasty with blepharoptosis correction can achieve good result for blepharophimosis syndrome with a shortened treatment time.
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Ophthalmic Genet
December 2024
Department of Ophthalmology, Université de Montréal, Montreal, Québec, Canada.
Introduction: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to genetic variants. We present a novel variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.
Methods: Genetic testing performed on a large panel revealed a likely pathogenic variant in the gene (heterozygous, c.
Mol Genet Genomic Med
October 2024
Neonatal Pediatrics, Shandong University Second Hospital, Jinan, Shandong, China.
Background: This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants.
Methods: This paper presents a case of an extremely low birth weight infant (gestational age 29 weeks) with KS1 caused by a variant in the KMT2D gene. The clinical, pathological, and differential diagnostic findings were comprehensively analyzed.
Am J Med Genet A
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
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