Infant Umbilical Hernia

Figure 4.16. 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.

Anophthalmia

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.

4.17

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 4.18. Another common finding in trisomy 13 is a midline scalp defect, which is most common in the parieto-occipital area. This infant also had abnormal ears, micrognathia, and polydactyly.

Trisomy Pataw Syndrame Male

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Trigonocephaly

Figure 4.20. In this infant with trigono-cephaly, hypotelorism, patchy alopecia, and eleven ribs, the diagnosis was that of a ring D chromosome defect (karyotype was performed in the pre-banding era). Trigonocephaly is associated with premature fusion of the metopic suture and may occur in chromosomal anomalies and in median cleft syndrome, but also occurs in normal infants.

4.21

Trigonocephaly Pictures

Figure 4.20. In this infant with trigono-cephaly, hypotelorism, patchy alopecia, and eleven ribs, the diagnosis was that of a ring D chromosome defect (karyotype was performed in the pre-banding era). Trigonocephaly is associated with premature fusion of the metopic suture and may occur in chromosomal anomalies and in median cleft syndrome, but also occurs in normal infants.

Polycystic Kidney Disease Karyotype

Figure 4.21. This view better demonstrates the trigonocephaly and the patchy alopecia.

Trigonocephaly

Figure 4.22. Severe intrauterine growth retardation (birthweight 1590 g at term) was noted in this infant with the typical findings of trisomy 18 (Edwards' syndrome). Note the low-set, poorly developed ears, micrognathia, and the typical overlapping position of the fingers. In trisomy 18 there is a preponderance of three females to one male infant. Other findings in trisomy 18 include prominent occiput, microcephaly, short sternum, congenital heart disease, abnormal genitalia, and renal anomalies (horseshoe kidney, polycystic kidneys, etc.). If the infant survives, there is severe mental retardation.

Overlapping Fingers Trisomy

Figure 4.23. A close-up view of the face and skull in the same infant shows the characteristic prominent occiput, low-set abnormal ears with atresia of the external auditory canals (the ears often appear cupped), and micrognathia. The typical flexion deformity of the fingers can also be seen.

Figure 4.24. Trisomy 18 in another infant shows the intrauterine growth retardation, narrow bifrontal diameter, low-set ears, and micrognathia. Note the typical clenched hands with flexion deformities of the fingers.

Figure 4.23. A close-up view of the face and skull in the same infant shows the characteristic prominent occiput, low-set abnormal ears with atresia of the external auditory canals (the ears often appear cupped), and micrognathia. The typical flexion deformity of the fingers can also be seen.

Microcephalic Deformities

4.24

Cupped Ears Syndrome
Figure 4.25. The lateral view of the same infant as in Fig. 4-24 shows the prominent occiput, low-set ears with a large pinna, and micrognathia.

4.26

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Responses

  • merja
    What kind of umbilical hernia's are there?
    5 years ago
  • andrea
    Do prune belly syndrome babies grow?
    1 year ago

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