Robinow Syndrome

Robinow Syndrome

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.

Ehlers Danlos Syndrom Vascular Type
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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Robinow Syndrome

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.

Tensibility
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.

Double Collecting System KidneyRobinow Syndrome

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.

Mesomelic Dwarfism
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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Down Syndrome Philtrum

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.

Breast Hypertrophy

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.

Hypoplastic Philtrum
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.

Femoral Hypoplasia

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Responses

  • pimpernel
    What type of dwarfism is robinow syndrome?
    7 years ago

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