In the evaluation of the genetic heterogeneity of congenital cataract and in establishing the nosologic diagnosis the cooperation of the ophthalmologist and geneticist is necessary. The importance of ophthalmologic syndromology for genetic counseling is shown in cases of Fraser's syndrome (McKusick No. 21,900), Usher's syndrome (N. 27,690), a syndrome involving acromegaly, cutis verticis gyrata and corneal leukoma (No. 10,210), a syndrome with congenital cataract, microphthalmia and nystagmus (No. 21,255), and a presumably new dominant hereditary cataract-vitiligo syndrome.
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http://dx.doi.org/10.1159/000309321 | DOI Listing |
J Anus Rectum Colon
January 2025
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, Japan.
Objectives: Mismatch repair (MMR)-deficient (dMMR) colorectal cancer (CRC) have been largely categorized into three subtypes: methylated, Lynch syndrome (LS)-associated, and Lynch-like syndrome (LLS)-associated. No studies have examined the prevalence and subtypes of synchronously diagnosed dMMR CRCs in detail. Therefore, this study aimed to examine the frequency and molecular characteristics of the dMMR status among multiple synchronous CRCs to clarify the clinical significance of identifying patients with such tumors.
View Article and Find Full Text PDFGriscelli syndrome is a rare autosomal recessive disorder characterised by pigmentary dilution of skin and hair, recurrent skin and pulmonary infections, neurological manifestations, and immunodeficiency. We present a four-month-old female child with hypopigmented silvery hair and a history of recurrent hospitalisations for respiratory illness. The child was extensively evaluated for inborn errors of immunity (IEI), and the final diagnosis of type 2 Griscelli syndrome was made only after genetic testing.
View Article and Find Full Text PDFTurk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
View Article and Find Full Text PDFObstet Gynecol Clin North Am
March 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, UC Davis Health, Sacramento, CA, USA. Electronic address:
Availability of genetic testing and screening options has advanced significantly, and increasingly becoming included in obstetric (OB) and gynecologic practices. Advanced technologies have caused genetic screening to become more complex. Genetic screening is recommended for all pregnant patients and is routinely offered in OBs and gynecology.
View Article and Find Full Text PDFPsychiatr Clin North Am
March 2025
Department of Psychiatry and Yale Child Study Center, Yale School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA. Electronic address:
This review explores the genetic basis of Tourette syndrome (TS), a complex neuropsychiatric disorder characterized by motor and vocal tics. Family, twin, and molecular genetic studies provide strong evidence for a genetic component in TS, with heritability estimates ranging from 50% to 80%. The genetic architecture of TS is complex, involving both common variants with small effects and rare variants with larger effects.
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