Down's Syndrome

Swati Kolpuru
Neonatal Features
Many fetuses with Down's syndrome are now prenatally diagnosed by karyotyping done because of advanced maternal age or abnormal triple screen test or fetal ultrasonographic findings.

If not prenatally diagnosed, most patients with Down syndrome are usually recognized at birth owing to characteristic physical findings. Common neonatal features include :

- Rounded head
- Third fontanelle
- Brachycephaly
- Fine, soft and sparse hair
- Upslanted palpebral fissures
- Epicanthal folds
- Brushfield spots
- Spoke-like appearance of the retinal vasculature
- Midfacial hypoplasia
- Flattened nasal root
- Small dysplastic pinnae
- Large tongue in a small mouth
- Short neck
- Transverse palmar creases
- Brachydactyly
- Fifth-finger clinodactyly
- Wide gap between the first and second toe
- Diastasis recti
- Hypotonia
- Poor neck retraction response
- Poor or absent Moro's reflex
- Small penis (male) or labial index sign (female)

Life threatening conditions diagnosed in newborn with Down syndrome include:

Congenital heart disease: Congenital heart disease represents the most common cause of death in childhood. The cardiac defects that can occur are:
- Endocardial cushion defect
- Ventricular septal defect
- Patent ductus arteriosus
- Atrial septal defect
- Tetralogy of Fallot
Diagnosis of cardiac disease in infants with Down syndrome is not always obvious; in fact, clinical examination in the newborn period may be entirely normal. The alerting signs are poor feeding, easy fatigability, dyspnea, diaphoresis, cyanosis, and a cardiac murmur. However, some infants are asymptomatic if they are not experiencing congestive cardiac failure. Therefore, any infant with Down syndrome needs careful evaluation by current techniques such as echocardiography, Doppler flow analysis, etc.

Congenital gastrointestinal disease: Duodenal obstruction occurs more frequently in infants with Down syndrome. The infant may present with bile stained vomiting, abdominal distension and a visible peristaltic wave. A "double bubble sign" characterizes the abdominal radiograph. The obstruction may be caused by congenital atresia, intrinsic stenosis, or extrinsic stenosis secondary to annular pancreas or malrotation of the bowel with bands. In the neonatal period, these lesions may constitute surgical emergencies. Other malformations that can occur are:
- Hirschsprung disease
- Esophageal atresia
- Pyloric stenosis
- Diverticulum of the stomach
- Malrotation of the bowel

Hematological disease:
The incidence of leukemia is higher in infants with Down's syndrome. Other disorders described in newborns include:
- Polycythemia
- Thrombocytopenia
- Erythroblastosis fetalis

Ophthalmologic problems:Nystagmus and strabismus occur frequently in the newborn period and require consultation to rule out corneal opacities. Other ocular problems seen are:
- Refractive error
- Blepharoconjunctivitis
- Cataracts
- Keratoconus
- Retinal pathology
- Optic nerve hypoplasia
An abnormality detected on physical examination or poor visual tracking requires further investigation.

Urogenital abnormalities: These include:
- Micropenis
- Cryptorchidism
- Hypospadias
- Anomalies of the kidneys and ureters

Endocrine abnormalities:
Persistent primary congenital hypothyroidism commonly occurs in newborns with Down syndrome. Thus, thyroid screening which is so important for all infants, is particularly relevant for infants with Down syndrome.

Ear problems:
There is an increased incidence of congenital sensorineural hearing loss in children with Down's syndrome, so a hearing screen is recommended before discharge. Middle ear effusions may also be present.

Down's Syndrome Down's Syndrome 12/24/2001
Cardinal Features in Neonates >>
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