Non Chromosomal Syndromes Associations and Sequences

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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 simple the malformation. In 10% of these infants, a chromosomal abnormality can be detected. In approximately 20%, the malformations are based on a single gene defect, with autosomal dominant disorders predominating. Multifactorial inheritance accounts for 30% of neonates with malformations. A small percentage of malformations is seen in infants born to diabetic mothers or mothers who have received a known teratogenic drug. The remaining 35% of newborn infants have no identifiable cause for their malformations. In infants with malformations, 7.5% are associated with deformations (see Volume I, Chapter 5). Malformations and deformations may recur with a similar pattern. Disruptions tend to be sporadic and no two cases are exactly alike. Due to limitations of space, this section can demonstrate only some very characteristic findings; therefore the clinician should not consider these descriptions to be complete and should refer to other references as needed.

Relative Polycythemia

Figure 3.1. The top half of the figure shows macroglossia and a nevus flammeus; the lower portion shows an omphalocele; both in an infant with Beckwith-Wiedemann syndrome (exomphalos-macroglossia-gigantism [EMG] syndrome). It is usually sporadic and 60% of cases occur in females. Hemihypertro-phy occurs in 10 to 15% of the infants.

Turner Chromosomal Region
Figure 3.2. Another example of an infant with the typical macrosomia (birthweight of 3950 g), polycythemia (hematocrit 66%) and hypoglycemia. Note the macroglossia, nevus flammeus over the glabellar region and the eyelids, and the prominent eyes with relative infraorbital hypoplasia.

Figure 3.1. The top half of the figure shows macroglossia and a nevus flammeus; the lower portion shows an omphalocele; both in an infant with Beckwith-Wiedemann syndrome (exomphalos-macroglossia-gigantism [EMG] syndrome). It is usually sporadic and 60% of cases occur in females. Hemihypertro-phy occurs in 10 to 15% of the infants.

Turner Syndrome Baby

Figure 3.3. This infant with Beckwith-Wiedemann syndrome shows the prominent occiput and typical transverse crease in the lobe of the ear.

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Beckwith Wiedemann Syndrome Ears

Figure 3.5. This 2-month-old infant with Caffey's syndrome (infantile cortical hyperostosis) shows the characteristic swelling of the jaw and right forearm. It usually occurs in a well-nourished infant. When the jaw is involved there is usually marked swelling of the face, mainly localized over the jaw. Most commonly this condition is diagnosed in the first few months of life, but congenital Caffey's syndrome has been reported.

Figure 3.4. Transverse creases of the lobes of the ears in an infant with Beckwith-Wiedemann syndrome.

Figure 3.5. This 2-month-old infant with Caffey's syndrome (infantile cortical hyperostosis) shows the characteristic swelling of the jaw and right forearm. It usually occurs in a well-nourished infant. When the jaw is involved there is usually marked swelling of the face, mainly localized over the jaw. Most commonly this condition is diagnosed in the first few months of life, but congenital Caffey's syndrome has been reported.

Figure 3.6. The same infant with Caffey's syndrome. Note that the left arm is normal but the right forearm is swollen and tender.

Figure 3.6. The same infant with Caffey's syndrome. Note that the left arm is normal but the right forearm is swollen and tender.

Figure 3.7. A radiograph showing die cortical hyperostosis of the jaw in an infant at the age of 4/2 months.

Figure 3.8. Lower extremity radiograph of die same infant at the age of / month. Note the early cortical hyperostosis of the femur and tibia.

Figure 3.9. Follow-up radiograph of the lower extremity in the same infant at the age of 4/2 months shows the marked cortical hyperostosis of the left tibia. Periosteal thickening of the long bones with translucent bands at the distal epiphyseal ends is diagnostic. Later, the bones expand and the cortex is thinned. The enlarged medullary cavity has little trabeculation and the soft tissue is swollen. The condition is self-limiting.

Mozaic Ear

Figure 3.10. Infant with the CHARGE association. Occurrence is non-random and is characterized by coloboma, heart disease, atresia of the choanae, retarded postnatal growth and development, genitourinary anomalies, and ear anomalies and deafness. Most infants have some degree of mental deficiency. The coloboma commonly involves the retina but may range in severity from an isolated coloboma of the iris to anophthalmos.

Figure 3.10. Infant with the CHARGE association. Occurrence is non-random and is characterized by coloboma, heart disease, atresia of the choanae, retarded postnatal growth and development, genitourinary anomalies, and ear anomalies and deafness. Most infants have some degree of mental deficiency. The coloboma commonly involves the retina but may range in severity from an isolated coloboma of the iris to anophthalmos.

Figure 3.12. Cornelia de Lange's syndrome (Brachmann-de Lange syndrome: typus degenerativus amstelodamensis). One hundred percent of these infants have shortness of stature of prenatal onset, mental retardation and sluggish physical activity, hypoplastic nipples, initial hypertonicity and a low-pitched, weak, growling cry in infancy. Most of the infants have early feeding difficulties and early growth failure. In diis infant note the bushy eyebrows and micromelia.

Figure 3.12. Cornelia de Lange's syndrome (Brachmann-de Lange syndrome: typus degenerativus amstelodamensis). One hundred percent of these infants have shortness of stature of prenatal onset, mental retardation and sluggish physical activity, hypoplastic nipples, initial hypertonicity and a low-pitched, weak, growling cry in infancy. Most of the infants have early feeding difficulties and early growth failure. In diis infant note the bushy eyebrows and micromelia.

Ullrich Turner Syndrom

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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.

Famous People With Microcephaly

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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Anteverted Nostril

Figure 3.15. Anodier infant with Cornelia de Lange's syndrome showing die 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 die 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 die right hand. Both a single palmar crease (simian crease) and clin-odactyly are very common in infants with this syndrome.

Severe Micromelia
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.
Punctum Excavatum

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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.

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Eeg For Infants Normal And Abnormal

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.

Ullrich Turner Syndrom Prominente

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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Bizarre Human Conditions
Figure 3.21. In this figure of the same infant note the ectrodactyly (lobster-clw deformity) of both hands. In this condition, usually all four extremities have a lobster-claw deformity.
Genitourinary Defects Newborn Images

Figure 3.24. Eagle-Barrett syndrome (prune belly syndrome) is also described as the triad syndrome: absence of abdominal musculature, genitourinary tract abnormalities, and cryptorchidism. In this fetus there is a markedly distended abdomen due to a very distended bladder. It is now thought that the genitalia and urinary tract abnormalities are the precursor of the absence of abdominal musculature.

Robinow Syndrom

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Eec Syndrom Foto

Figure 3.25. The characteristic findings of prune belly syndrome are present in this infant. Note the marked laxity of the abdominal wall giving it the appearance of a "prune," and the large mass on the left side of the abdomen due to massive dilatation of the ureter and hydronephrosis. Also note the cryptorchidism.

Figure 3.25. The characteristic findings of prune belly syndrome are present in this infant. Note the marked laxity of the abdominal wall giving it the appearance of a "prune," and the large mass on the left side of the abdomen due to massive dilatation of the ureter and hydronephrosis. Also note the cryptorchidism.

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Figure 3.26. Another example of absence of abdominal musculature. Note the typical appearance of the prune belly on the left of the figure and the transillumination showing the massive hydroureter on the right.

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Abdominal Cryptorchid
Figure 3.27. Appearance of absence of abdominal musculature in another infant.

Figure 3.28. Cryptorchidism in an infant with prune belly syndrome.

Figure 3.29. A common finding in infants with prune belly syndrome is a patent urachus.

Figure 3.30. Radiograph of abdomen showing the bulging of the flanks and abnormal gas pattern due to genitourinary tract abnormalities in an infant with Eagle-Barrett syndrome.

Figure 3.28. Cryptorchidism in an infant with prune belly syndrome.

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Figure 3.31. Contrast study in the same infant as in Figure 3.30 showing the massive hydroureter.

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Figure 3.31. Contrast study in the same infant as in Figure 3.30 showing the massive hydroureter.

Cutis Marmorata Babies
Figure 3.32. This infant with Ehlers-Danlos syndrome (cutis hyperelastica) presented at birth with marked hypotonia, joint hypermobility, and hyperextensibility of the skin. Note the epican-thal folds.

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Ullrich Turner Syndrom

Figure 3.33. Figure of die same infant showing die webbing of die neck and hyperextensibility of die skin. The elasticity of die skin allows it to stretch and recoil, whereas in cutis laxa the skin hangs down in loose folds and does not recoil, and die joints are not hyperextensible as is seen in Ehlers-Danlos syndrome.

Ehlers Danlos Cigarette Paper Scars
Figure 3.34. In the same infant note the hyperex-tensibility of the skin and the mild skin defects. There may be flat scars with paper-thin scar tissue, and hematomas occur after mild trauma in Ehlers-Danlos syndrome.

Figure 3.35. Other findings in Ehlers-Danlos syndrome include diaphragmatic hernia, congenital heart defects, and renal anomalies. There may be ectasia of portions of the gastrointestinal and respiratory tracts. The infant had an atrial septal defect, a small left diaphragmatic eventration, absence of the right mesocolon, and a double collecting system of the left kidney with an ectopic right kidney in the pelvis. The infant also demonstrates the second and fourth toes set dorsally to the first, third, and fifth toes and connected by a web.

Figure 3.36. The renal system of the same infant at autopsy shows the ectopic right kidney which was in the pelvis and the left kidney with a double collecting system proximally.

Figure 3.37. The fetal face syndrome (Robinow's syndrome or mesomelic dysplasia). These infants have slight to moderate shortness of stature, macro-cephaly, a large anterior fontanelle, and frontal bossing with apparent hyper-telorism, a short nose with anteverted nares, a long philtrum, and a small mouth with micrognathia. These result in a flat facial profile. The appearance of the face is similar to that of a fetus of about 8 weeks gestation. Hyperplastic alveolar ridges are present and a microphallus is a frequent finding.

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Figure 3.37. The fetal face syndrome (Robinow's syndrome or mesomelic dysplasia). These infants have slight to moderate shortness of stature, macro-cephaly, a large anterior fontanelle, and frontal bossing with apparent hyper-telorism, a short nose with anteverted nares, a long philtrum, and a small mouth with micrognathia. These result in a flat facial profile. The appearance of the face is similar to that of a fetus of about 8 weeks gestation. Hyperplastic alveolar ridges are present and a microphallus is a frequent finding.

Frontal Bossing Babies
Figure 3.38. In this figure of the same infant note the marked frontal bossing, the large anterior fontanelle, the short nose, long philtrum, and micrognathia.

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Microphallus

Figure 3.39. The chest and upper extremities of the same infant show the mesomelic dwarfism with the short forearms and brachydactyly. Mesomelic dwarfism affects the upper extremities more than the lower in these infants. There is mild pectus excavatum. Also note that this infant has some breast hypertrophy due to mastitis neonatorum.

Figure 3.39. The chest and upper extremities of the same infant show the mesomelic dwarfism with the short forearms and brachydactyly. Mesomelic dwarfism affects the upper extremities more than the lower in these infants. There is mild pectus excavatum. Also note that this infant has some breast hypertrophy due to mastitis neonatorum.

Turner Syndrome Breast

Figure 3.40. Note that the lower extremities of the same infant are normal except for the presence of bilateral rocker-bottom feet.

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Figure 3.40. Note that the lower extremities of the same infant are normal except for the presence of bilateral rocker-bottom feet.

Femoral Facial Syndrome
Figure 3.41. Infants with the femoral hypoplasia-unusual facies syndrome present with small stature and a typical facies. There are upslanting palpebral fissures, a short nose with hypoplastic alae nasi, a long philtrum, and a thin upper lip. A cleft palate may be present.

Figure 3.42. In this figure of the same infant note the abnormal lower extremities. These may be due to hypoplastic or absent femora and fibulae. In this infant the femora were absent and note also the bilateral talipes equinovarus. Hypoplasia of the humeri with restricted elbow movement may also occur in this syndrome.

Consanguinity

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