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Infants may show facial abnormalities, micrognathia, cleft lip, spina bifida, as well as other birth defects that result from kidney, limb, and umbilical cord complications. They are also prone to being smaller than a normal sized newborn , a problem that arises while the infant is still a fetus.
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
Spina bifida (SB; /ˌspaɪnə ˈbɪfɪdə/, [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]
Cranial sutures. A defining characteristic of Crouzon syndrome is craniosynostosis, which results in an abnormal head shape.This is present in combinations of: frontal bossing, trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (unilateral premature closure of lambdoid and coronal sutures ...
Spina bifida occulta means hidden split spine. [20] In this type of neural tube defect, the meninges do not herniate through the opening in the spinal canal. [19] The most frequently seen form of spina bifida occulta is when parts of the bones of the spine, called the spinous process, and the neural arch appear abnormal on a radiogram, without ...
Cerebro-costo-mandibular syndrome is a very rare genetic disorder which is characterized by jaw/chin, palate and rib abnormalities. [1] ... Spina bifida; Ventricular ...
Spina bifida is a birth defect that affects the lowest part of the spine and occurs when a fetus's neural tube does not fully close, causing the backbone that protects the spinal cord not to form ...
Iniencephaly is a rare type of cephalic disorder [1] [2] characterised by three common characteristics: a defect to the occipital bone, spina bifida of the cervical vertebrae and retroflexion (backward bending) of the head on the cervical spine. [3]