Pena-Shokeir phenotype with variable onset in three consecutive pregnancies

Ultrasound in Obstetrics and Gynecology

Volumn 17, Issue 2, 2001, Pages 163-165

  Paladini, D ^a   Tartaglione, A ^a   Agangi, A ^a   Foglia, S ^b   Martinelli, S ^a   Nappi, C ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Marcianise Hospital (CE)   (Italy)

Author keywords

Arthrogryposis; Autosomal recessive; Fetus; Micrognathia; Pena Shokeir syndrome; Prenatal diagnosis; Ultrasound

Indexed keywords

ADULT; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; COFS SYNDROME; DIAGNOSTIC VALUE; FACE MALFORMATION; FEMALE; FETUS; HUMAN; HUMAN CELL; HUMAN TISSUE; LUNG HYPOPLASIA; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0035085257     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2001.00246.x     Document Type: Article

References (7)

1. Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. A lethal condition
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3. Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): Obstetric and ultrasound aspects
4. Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy
5. Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging
6. Pterygium syndrome
7. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome