patau syndrome
Patau syndrome (also known as trisomy 13) is considered the 3 commonest autosomal trisomy.
Patau syndrome along with Down syndrome (trisomy 21) and Edward syndrome (trisomy 18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days.
Epidemiology
The estimated incidence is approximately 1:6,000. There may be an increased incidence with advanced maternal age.
Clinical presentation
Described features are protean and include
- congenital heart disease: 50-80%
- central nervous system/head and neck abnormalities: 70%
- holoprosencephaly: most well known associated CNS anomaly: ~40-50%
- microcephaly
- fetal hydrocephalus
- enlarged cisterna magna
- agenesis of the corpus callosum
- persistent stapedial artery
- retinal dysplasia
- spinal anomalies
- intrauterine growth restriction (IUGR): tends to be early
- abnormal facies: 90%, strong marker
- skeletal abnormalities
- polydactyly: 70% (tends to be post-axial)
- rocker bottom feet
- clenched hands +/- overlapping digits
- abdominal wall abnormalities
- genitourinary anomalies
Pathology
Three forms are known
- free trisomy 13: classical form
- translocation trisomy 13
- mosaic trisomy 13
Markers
- reduced maternal serum alpha fetoprotein (MSAFP)
- reduced maternal beta HCG
- reduced PAPP-A
Associations
Radiographic features
Antenatal ultrasound
Many of the individual clinical features listed above may be seen on ultrasound. Other general features include:
- abnormal liquor volumes: either polyhydramnios (more common) or oligohydramnios
- evidence of IUGR: especially early
- increased nuchal thickness
- evidence of hydrops fetalis
- echogenic bowel
- echogenic chorda tendinae
Treatment and prognosis
The syndrome carries a poor prognosis with most individuals not surviving beyond in utero or soon after birth. Management is mainly supportive.
Differential diagnosis
Clinically, individuals with Meckel-Gruber syndrome may carry some features similar to that of trisomy 13.
Siehe auch:
- Mega Cisterna magna
- Spina bifida
- Polydaktylie
- Hypertelorismus
- Down-Syndrom
- Herzfehler
- Meckel-Syndrom
- Hydrops fetalis
- Kryptorchismus
- Mikrognathie
- Polyhydramnion
- Oligohydramnion
- Trisomie 18
- Mikrozephalie
- Blasenekstrophie
- Holoprosencephalie
- Mikrophthalmus
- Lippen-Kiefer-Gaumen-Spalte
- hypoplastic left heart syndrome
- Intrauterine Wachstumsretardierung
- Omphalozele
- trisomies
- nuchal thickness
- Hypotelorismus
- proboscis
- singuläre Nabelschnurarterie (sNSA)
- cyclopia
- cystic renal dysplasia
- Talus verticalis
- Ventrikelseptumdefekt
- overlapping digits
- Anophthalmie
- Dysgenesie des Corpus callosum
- clenched hands
- echogenic bowel
- Pseudotrisomie-13-Syndrom
- intra uterine growth restriction (IUGR)
- persistierende Arteria stapedia
- kongenitaler Hydrozephalus
- post-axial
und weiter:
- congenital tracheo-oesophageal fistula
- Ebstein anomaly
- angeborene renale Anomalien
- Varianten der Herzanatomie
- ARPKD
- Kamptodaktylie
- Myelomeningozele
- chromosomale Anomalien
- absent nasal bone
- Radiusaplasie
- aneuploidy
- double outlet right ventricle (DORV)
- postaxiale Polydaktylie
- dysencephalia spanchnocystica
- Golfballphänomen
- orbital hypertelorism
- altered alpha fetoprotein levels
- Arrhinenzephalie
- dreigliedriger Daumen
- antenatal screening
- cebocephaly
- differential diagnosis of osteoporosis
- enlarged echogenic fetal kidneys
- two vessel cord
- mono nostril
- persistierender hyperplastischer primärer Glaskörper (PHPV)
- Zephalozele
- Cantrell’sche Pentalogie
Assoziationen und Differentialdiagnosen zu Pätau-Syndrom:
