 Case Index
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| Case 1: |  | 5 year old female was remarkably small for gestational age at birth. She remained persistently growth retarded and had developmental delay as well. She has dysmorphic features as pictured.
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| Case 2: |  | Mother reportedly has a history of congenital heart defects. Both infants appear to have cardiac murmurs.
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| Case 3: |  | Female infant presents with history of puffy hands and feet.
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| Case 4: |  | Marked short stature sparse slow growing hair. Parents are first cousins from a small town in Mexico.
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| Case 5: |  | This male presented at 2 months with the features shown here, as well as a dysplastic pulmonary valve with mild pulmonic stenosis.
He is shown at a later age with his mother below.
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| Case 6: |  | This child shown at 17 months, 4 years, and 8 years of age is learning disabled with a bifid uvula and a submucous cleft palate. She has a ventricular septal defect which closed spontaneously and a right-sided aortic arch.
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| Case 7: |  | Healthy African American parents delivered this 9 year-old boy with limb anomalies. Preoperative CBC showed a platelet count of 45,000. A subsequent pregnancy resulted in the infant shown on the right.
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| Case 8: |  | This male patient appeared normal at birth and developed postnatal short stature with joint contracture, clear cornea and hepatomegaly. His white cells show storage granules. The mother of this patient lost a brother with similar features; he was nine years old.
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| Case 9: |  | This short stature male presented with claudication pain in both legs relieved by squatting.
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| Case 10: |  | This girl presented with marked feeding difficulty requiring a feeding gastrostomy tube. She also has left facial weakness, bilateral profound sensorineural deafness, iris colobomas and tetralogy of fallot.
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| Case 11: |  | This boy appeared normal at birth but experienced severe growth failure with postnatal-onset microcephaly and cutaneous sun sensitivity. His vision and hearing are failing, and his development has slowed.
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| Case 12: |  | This child was small at birth with subsequent failure to thrive and developmental delay. Chromosomes are 46, XY.
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