trisomy 13
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Patau syndrome
Trsiomy 13 is the least common and the most severe of the viable autosomal trisomies.
Synopsis
craniofacial anomalies
- microcephalia
- receding forehead
- epicanthal folds
- sparse curled eyelashes
- midline scalp defects at vertex (cutis aplasia)
- horizontal palpebral fissures
- broad and flat nose
- abnormal ears
- low-set ears
- flat ears
- poorly defined ears
- microtia
- ocular anomalies
- microphthalmia
- anophthalmia
- deep-set eyes
- cataract
- corneal opacities
- retinoschisis
- hypoplasia of optic nerve
- persistent hyperplastic primary vitreous
- coloboma of iris or retinal coloboma
- aniridia
- retinal dysplasia
- retinoblastoma
- hypotelorism
- incisor teeth present at birth
- midline facial defects
- cleft lip / cleft palate
- absent or malformed nose or proboscis
cardiovascular malformations (80%)
- patent ductus arteriosus
- atrial septal defect
- ventricular septal defect
- dextrocardia (cardiac dextroposition)
cerebral anomalies
- holoprosencephaly
- microcephaly
- heterotopia of striated skeletal muscle and glial tissue in pontine leptomeninges (6548367)
splenopancreatic field abnormality
- splenopancreatic fusion
- ectopic splenic tissue in the cauda pancreatis
- ectopic pancreatic tissue in the spleen or accessory spleen
- fusion of the cauda pancreatis and splenic hilum
urinary anomalies
- polycystic kidneys (micromulticystic kidneys)
- renal malformations
- renal duplication
- urteral duplications
- hydronephrosis and hydroureters
- bilateral nephrogenic rests (nephroblastomatosis) (16177880)
male genital anomalies
- cryptorchidism
- scrotal anomalies
- Leydig cell hypoplasia
- testicular agenesis
female genital anomalies
- bicornuate uterus
- clitoridal hyperplasia
- double vagina
omphalocele
hernias
skeletal anomalies
- hypoplastic 12th ribs
- 12th ribs agenesis
- hypoplastic pelvis with flattened acetabular angle
- kyphoscoliosis
limb anomalies
- prominent calcaneum
- rocker-bottom feet
- postaxial polydactyly of hands or feet (hexadactyly)
- talipes equinovarus
- talipes calcaneovalgus
- flexed fingers
- retroflexed thumbs
- clinodactyly of little fingers
- camptodactyly
- narrow and hyperconvex nails
- dermatoglyphic anomalies
- distal axial triradius
- single palmar crease (simian line)
- arch fibular or arch fibular 5 pattern
capillary hemangiomas (face, forehead, nape of neck)
hematologic anomalies
- multiple projections in neutrophilic nuclei
- increased fetal hemoglobin (HbF)
- increased Gower-2 hemoglobin
Etiology
nondisjunction during maternal meiosis
- a significant association exists between Patau syndrome and increased maternal age
See also
- trisomy 18 (Edwards syndrome)