Russell-silver Syndrome

Images Russell Silver Syndrome

Close-up of the face of the same infant showing again the disproportion between the large head and the small face which tapers to a narrow jaw giving rise to a triangular facies. The fronto-occipital circumference is normal and the fontanelles are enlarged. Note the frontal bossing, prominent eyes, long eyelashes, and downturned angles of the mouth giving a carp-like appearance , micrognathia, and posteriorly rotated ears. A triangular facies is often the result of a disparity...

Photos Of Infants With Marfan

Infants With Marfan Syndrome

A term newborn with Marfan syndrome who had a birth weight of 3720 g and a length of 54 cm. Note the tall stature with long slim limbs and hypotonia. In Marfan syndrome, limbs are disproportionately long and trunk length is usually normal resulting in a low upper lower segment ratio. Ophthalmologic and cardiovascular pathologies, such as dislocation of the lens and aneurys-mal dilatation of the aorta, are usually noted after the neonatal period. Figure 3.98. A term newborn with...

Cornelia De Lange Syndrome

Cornelia Lange Hand

A close-up of the face of the same infant with the typical Potter facies associated with oligohydramnios and renal agenesis. Note the low-set abnormal ears, the flat nose, and micrognathia. Epicanthal folds were also present. Figure 1.26. Radiograph of the lower extremities of the same infant with sirenomelia shows the presence of two separate femora with fusion of soft tissue, two separate tibiae, and a single fibula distally. Skeletal deficiencies may be longitudinal defects...

Baby With Low Set Ears

Micrognathia Syndrome

The same infant also had an omphalocele. The finding of cleft lip and palate with an omphalocele or large umbilical hernia should alert one to the possibility of the diagnosis of trisomy 13. Figure 4.17. Median cleft syndrome may be associated with chromosomal defects. This infant with tri-somy 13 had cyclops with anophthalmia. There is no proboscis present. There was arhinencephaly and alobar holoprosencephaly on CT scan. Figure 4.17. Median cleft syndrome may be associated with...

Prader Willi Syndrom Baby

Musculoskeletal Disorders

In this view of the same infant as in Figure 3.156, in addition to the hypotonia, some of the characteristic craniofacial features are apparent. Note the almond-shaped, upslanting palpebral fissures and the prominent forehead. Figure 3.158. There is marked hypotonia in this infant with Prader-Willi syndrome in the prone position. It is usually severe in early infancy, and Moro's reflex and tendon reflexes are decreased or absent. Congenital dislocation of the hips is not Figure...

Female Genital Deformity

Female Genital Abnormalities

A close-up of the genitalia of the same infant as shown in Figure 3.150 shows the divided scrotum with cryp-torchidism on the right. In female infants there may be hypoplastic labia minora and the genitalia may be ambiguous. Figure 3.151. A close-up of the genitalia of the same infant as shown in Figure 3.150 shows the divided scrotum with cryp-torchidism on the right. In female infants there may be hypoplastic labia minora and the genitalia may be ambiguous. Figure 3.152. This...

Marfan Syndrome Penis

Photo Four Toes The Foot

Hypoplastic right lower extremity with four toes on the right foot. Figure 1.102. The same infant showing the hypoplasia of the right lower extremity and the presence of four toes on the right foot. Note that the hypoplasia can be subtle. Figure 1.102. The same infant showing the hypoplasia of the right lower extremity and the presence of four toes on the right foot. Note that the hypoplasia can be subtle.

Caudal Regression Syndrome

Caudal Regression Syndrome Neonates

Radiograph of the lower extremities of the same infant. Note the abnormal development of the pelvis due to the lumbosacral agenesis, the thin, poorly developed bones and lack of muscle mass. This is due to lack of fetal movement and resulting arthrogryposis. Figure 1.14. An asymmetric form of the caudal regression syndrome and hypoplastic left lower extremity associated with hypopla-sia of muscles and sciatic nerve on the left Figure 1.14. An asymmetric form of the caudal...