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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...

Turner Syndrome

Turner Syndrome

The gap between the first and second toes (sandal or thong sign) is a typical finding in trisomy 21. The feet are broad and short. The plantar surfaces are creased with a deep long furrow (ape-line) between the first and second toes. Figure 4.56. A close-up view of the broad short foot of an infant with trisomy 21 shows the marked separation of the first and second toes and the deep furrows on the sole. Figure 4.56. A close-up view of the broad short foot of an infant with trisomy...

Syndrome De Turner

Turner Syndrome

Close-up of the face of the same infant showing the antimongoloid slant and colobomas of the lower eyelids which typically occur at the junction of the inner two-thirds and outer third of the lower eyelids. Note the absence of eyebrows and eyelashes, the prominent nose and the hypoplasia of the zygomatic bone. Figure 3.193. A less severe case of Treacher-Collins syndrome. Note the unilateral macros-tomia and the abnormal ear. Treacher-Collins syndrome is a familial malformation...

Turner Syndrome In Infants

Turner Syndrome Baby Boys

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...

Musculoskeletal Disorders

Congenital Scoliosis

Although some congenital musculoskeletal dysplasias are among the most obvious disorders of the neonate, they are also the most unusual. Congenital absence of all or part of a limb, deformities of the feet or hands, and lesions of the neck and trunk are rarely a diagnostic problem. The most common musculoskeletal dysplasias are among the most difficult to diagnose. Congenital hip dislocation may not be diagnosed even after repeated examination by experienced observers. Musculoskeletal...

Cutis Verticis Gyrata

Turner Syndrome Photos

Another infant with the femoral hypoplasia-unusual facies syndrome. Note the small stature, predominantly the result of the small lower limbs. Figure 3.44. Close-up of the lower extremities of the same infant showing the absence of the femora. Figure 3.45. Posterior view of the lower extremities of die same infant. Figure 3.46. Radiograph of the lower extremities of the same infant showing the absence of femora bilaterally, a hypoplastic fibula on the right and an absent fibula on...

Non Chromosomal Syndromes Associations and Sequences

Famous People With Microcephaly

A syndrome, association, sequence, or complex is a constellation of abnormal physical signs, each nonspecific in isolation but resulting in a mosaic that can be diagnosed with confidence. The pathogenic mechanisms involved are variable. The clinical presentation depends on the pathogenic mechanism and the time of occurrence. Approximately 2 of all newborn infants have a significant malformation which may be relatively simple or complex. The later the defect develops in gestation, the more...