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1988, Prenatal Diagnosis
We report two second trimester pregnancy terminations in the same woman following intrauterine ultrasonic findings of hydrops fetalis, polyhydramnios, lack of fetal movements, and short, fixed malformed limbs. One fetus also showed a cystic mass at the back of the head. Radiographic and anatomic studies of the fetuses demonstrated multiple pterygia, flexion contracture of multiple joints, abnormal facial appearance, cleft palate, pulmonary hypoplasia, and gracile bones. The cystic mass of the back of the head was found to be a cystic hygroma.These findings are consistent with the lethal variant of multiple pterygium syndrome. Early prenatal diagnosis of this condition is possible using ultrasonography.
American Journal of Obstetrics and Gynecology
The prenatal sono raphic diagnosis of lethal multiple pterygium syndrome: A heritable cause of recurrent abortion1988 •
American Journal of Medical Genetics
Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia1989 •
Prenatal Diagnosis
Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy2004 •
Journal of Pediatric Surgery
Cervical cystic hygroma in the fetus: Clinical spectrum and outcome1990 •
American Journal of Medical Genetics
Autosomal recessive multiple pterygium syndrome: A new variant?2000 •
2021 •
Popliteal pterygium syndrome (PPS) is an extremely rare autosomal dominant disorder, characterized by the cleft palate with or without cleft lip, limbs abnormalities with highly characteristic features of popliteal webbing, syndactyly, and genital abnormalities and nail anomalies. Prenatal diagnosis of PPS has been extremely rare. We describe a unique case of fetal PPS at 20 weeks of gestation. The diagnosis of PPS was based on the ultrasound findings of bilateral popliteal webbings, extending from posterior aspects of the upper thighs through the lower legs, resulting in restriction in knee extension, bilateral equinovarus feet with syndactyly, ambiguous genitalia and the grooved lip. Anatomical structures were otherwise normal. Trio whole-exome sequencing revealed a de novo heterozygous IRF6 gene mutation in the fetus, confirming the diagnosis with PPS. In conclusion, popliteal webbing or combination of facial cleft or cleft variants and bilateral abnormal postures of the lower li...
International Journal of Reproduction, Contraception, Obstetrics and Gynecology
Cystic hygroma with hydrops fetalis: a rare case report2014 •
Journal of Ultrasound in Medicine
Fetal Progeria: Prenatal Sonographic Findings in Petty Syndrome2013 •
Funeral Black Jack O'Mahony (1810-1906). Florence O’Mahony/Mahony, Kilcrohane
Funeral Black Jack O'Mahony (1810-1906). Florence O’Mahony Mahony, Kilcrohane2024 •
Undergraduate Research Journal
The seen and unseen: How the image of Medusa in art reflects women in law and society2021 •
2021 •
Entre ciencia e ingeniería
Huella hídrica del cultivo de aguacate cv. Hass (Persea americana Mill.), en el Distrito de Conservación de Suelos Barbas - Bremen, Quindío, Colombia2021 •
bioRxiv (Cold Spring Harbor Laboratory)
Assessing Individual Sensitivity to the Thermal Grill Illusion: A Two-Dimensional Adaptive Psychophysical Approach2024 •
The American Journal of Tropical Medicine and Hygiene
The Spread of Tick-Borne Borreliosis in West Africa and Its Relationship to Sub-Saharan Drought1996 •
2023 •
Chaos, Solitons & Fractals
Analytic self-similar solutions of the Oberbeck–Boussinesq equations2015 •
European Journal of Biochemistry
The CO Stretching Mode Infrared Spectrum of Substrate-Free Cytochrome P -450cam-CO. The Effect of Solvent Conditions, Temperature, and Pressure1996 •
International Journal of Computer Techniques
AI-Powered Open Source: Transforming Software Development and Community Engagement2023 •