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This chromosomal disorder is characterized by specific
midline dysmorphic features and organ malformations. Usually leading to
death before 6 months of life.
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Patau Syndrome; Bartholin-Patau Syndrome; Trisomy D
(Trisomy 13s).
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First described by Thomas Bartholin in 1657, but
recognized as a clinical syndrome when the trisomy etiology was discovered
by Klaus Patau in 1960.
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1:4000 to 1:10,000 live births. Age of onset: newborn.
Risk factors include advanced age of mother. Sex distribution is equal.
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In 75% of cases, it is manifested by a
trisomy of chromosome 13, caused by meiotic nondisjunctions. Translocations
(20% of cases) are also present and either associated with de novo or
familial translocation with a recurrence rate of 5 to 15%. The presence
of mosaicism (5%) is a result of postzygotic (postfertilization) mitotic
nondisjunction; however, it is less severe than full trisomy 13, but quite
variable.
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A single defect during the first 3 weeks of
development of the prechordal mesoderm can lead to morphologic defects of
the midface, eyes, and forebrain, as well as induction defects on the
prosencephalon (cerebral hemispheres, diencephalon, hypothalamus, thalamus),
leading to holoprosencephaly.
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Diagnosis can be evocated by the characteristic
features, including microcephaly, microphthalmia, hypertelorism, cleft lip
or palate, polydactyly, cardiovascular, and genitourinary and neurological
abnormalities. It is confirmed by karyotype. Death often occurs before 6
months of age.
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This severe disease is most often associated with
midline defects: mental retardation with head malformations (microcephaly; cranial asymmetry; arhinencephaly;
holoprosencephaly; cerebellar malformations; corpus callosum agenesis;
neural tube defects; anencephaly; seizures; sloping forehead; wide sagittal
suture and fontanels; cebocephaly; premaxillary agenesis; scalp defects;
dysplastic low-set ears; microphthalmia; hypertelorism or hypotelorism;
coloboma; retinal dysplasia orbital; cyclopia; choanal agenesis; cleft lip
or palate) and skeleton anomalies (polydactyly of the fingers and toes, ectrodactyly, valgus
deformity, spina bifida, hyperconvex narrow fingernails) are also observed.
Abdomen and pelvis (Meckel diverticulum; intestinal malrotation; mobile cecum; hypoplastic
penis and scrotum; cryptorchidism; bicornis uterus; microcystic and
hyperlobulated kidneys; megaureter; hydronephrosis; umbilical hernia; and
single umbilical artery) and thoracic organs (atrial septal defect, ventricular septal
defect, coarctation of the aorta, bicuspid aortic valve, bilobed lung) are
also involved. Apnea, feeding difficulty, and deafness are common.
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Evaluate cardiac function (clinical,
echocardiography, ECG), renal function (echography, CT, urea, creatinine,
electrolytes), and neurological function (clinical, CT scan, MRI, EEG).
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Direct laryngoscopy and tracheal
intubation can be difficult (face, mouth, and neck anomalies); the use of nasal tubes
can be impossible because of nose malformations and choanal atresia.
Spontaneous respiration must be maintained at all times because ...