Lobster Claw Syndrome

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Cornelia Lange Syndrome Infant

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Figure 3.13. Close-up of face of the same infant as in Figure 3.12. Note the hirsutism, bushy eyebrows, downward slanting palpebral fissures, and micrognathia.

Downward Slanting Palpebral Fissures

Figure 3.14. This infant with Cornelia de Lange's syndrome shows many of the characteristic findings: coarse, mop-like hair; bushy eyebrows and synophrys (confluent, thick eyebrows); long curly eyelashes; short nose with small anteverted nostrils; thin lips with a small midline beak of the upper lip; long philtrum; and downward curving of the angles of the mouth. The infants often have a masklike expression.

Figure 3.14. This infant with Cornelia de Lange's syndrome shows many of the characteristic findings: coarse, mop-like hair; bushy eyebrows and synophrys (confluent, thick eyebrows); long curly eyelashes; short nose with small anteverted nostrils; thin lips with a small midline beak of the upper lip; long philtrum; and downward curving of the angles of the mouth. The infants often have a masklike expression.

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Cephaly Infants

Figure 3.15. Anodier infant with Cornelia de Lange's syndrome showing the typical microbrachy-cephaly seen in over 90% of these infants, bushy eyebrows, small nose and micrognathia. Note the low-set ear and cutis marmorata which are also very common findings in Cornelia de Lange's syndrome.

Figure 3.16. Anomalies of the extremities are common in infants with Cornelia de Lange's syndrome varying from the most severe (micromelia) to small hands and feet (microcheiria and micropodia). This infant with Cornelia de Lange's syndrome has microcheiria of the right hand. Both a single palmar crease (simian crease) and clin-odactyly are very common in infants with this syndrome.

Figure 3.16. Anomalies of the extremities are common in infants with Cornelia de Lange's syndrome varying from the most severe (micromelia) to small hands and feet (microcheiria and micropodia). This infant with Cornelia de Lange's syndrome has microcheiria of the right hand. Both a single palmar crease (simian crease) and clin-odactyly are very common in infants with this syndrome.

Newborn With Cornelia Lange
Figure 3.17. Syndactyly of the first, second, third and fourth toes in an infant with Cornelia de Lange's syndrome. The most common type of syndactyly is that of the second and third toes which is seen in many normal infants and in many syndromes.
Musculoskeletal Disorders

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Figure 3.18. DiGeorge malformation complex. This is a primary defect of the fourth branchial arch and the third and fourth pharyngeal pouch. In this infant note the lateral displacement of the inner canthi (hypertelorism), the anteverted nares, and short philtrum with a cupid-bow mouth. This infant also had micrognathia, microcephaly, congenital heart disease (atrial septal defect and ventricular septal defect) and hypocalcemia. Note the congenital facial palsy which is not part of the complex. The EEG was grossly abnormal and the T cell count was decreased.

Lobster Claw Syndrome

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Lobster Claw Syndrome

Figure 3.19. Abnormal dysplastic ear in the same infant. The acronym "CATCH 22 syndrome" has been applied to DiGeorge syndrome in that there are cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, and 22q11 deletion.

Dysplastic Ears

Figure 3.20. In the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome there are varying manifestations of lobster-claw deformity (ectrodactyly) of the hands and feet and there is cleft lip/palate. The cleft lip is usually bilateral. Other manifestations include absence of the lacrimal puncta with tearing and blepharitis; abnormal teeth; malformations of the genitourinary (GU) tract such as cryptorchidism; and alterations in the skin and hair. Scalp hair, eyelashes and eyebrows are usually sparse and hair color is light. The nails may be hypoplastic and brittle. Most of these infants have normal intelligence. In this infant note the severe bilateral cleft lip and palate.

Figure 3.20. In the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome there are varying manifestations of lobster-claw deformity (ectrodactyly) of the hands and feet and there is cleft lip/palate. The cleft lip is usually bilateral. Other manifestations include absence of the lacrimal puncta with tearing and blepharitis; abnormal teeth; malformations of the genitourinary (GU) tract such as cryptorchidism; and alterations in the skin and hair. Scalp hair, eyelashes and eyebrows are usually sparse and hair color is light. The nails may be hypoplastic and brittle. Most of these infants have normal intelligence. In this infant note the severe bilateral cleft lip and palate.

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