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July 1986, Vol 140, No. 7 >
Article | July 1986

Radiological Case of the Month FREE

Michael W. Simon, MD, PhD; Lionel W. Young, MD
[+] Author Affiliations

Accepted for publication Feb 25, 1985.

Reprint requests to Department of Radiology, Children's Hospital of Pittsburgh, One Children's Place, 3705 Fifth Ave, Pittsburgh, PA 15213 (Dr L. W. Young).


Am J Dis Child. 1986;140(7):665-666. doi:10.1001/archpedi.1986.02140210063027.
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A 3740-g male infant was delivered by spontaneous vaginal delivery with Apgar scores of 6 and 8 at one and five minutes, respectively. Pregnancy was uncomplicated. The infant was in severe respiratory distress, with tachypnea (respirations, 120/min) and cyanosis. Physical examination showed the infant to have multiple congenital anomalies, including multiple gingiva to lip frenula, gingival irregularities and gingival cysts, thoracic hypoplasia, short, bowed long bones, postaxial hand polydactyly, and nail dysplasia. No cardiac anomaly was detected.

The infant was given oxygen therapy, and his condition appeared to stabilize. Chest, abdomen, and skeletal roentgenograms were obtained (Figs 1 to 3). An echocardiogram during the first week of life was normal. He continued to have tachypnea (respirations, 70/min to 80/min) but fed normally and gained weight. During the second week of life, he had an episode of bradycardia and apnea that necessitated resuscitation. Over the following 15 hours, his condition deteriorated

REFERENCES

1 +
Ellis RWB, van Creveld S:  Syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: Report of three cases . Arch Dis Child 1940;;15:65-84.
2 +
McKusick VA, Egeland JA, Eldridge R, et al:  Dwarfism in the Amish: I. The Ellis-van Creveld syndrome . Bull Hopkins Hosp 1964;:115: 306-336.
3 +
Smith DW: Recognizable Patterns of Human Malformation: Genetic, Embryologic and Clinical Aspects . Philadelphia, WB Saunders Co, 1982;.
4 +
Taylor GA, Jordan CE, Dorst SK, et al:  Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: The Ellis-van Creveld syndrome . Radiology 1984;;151:393-396.
5 +
Rosemberg S, Carneiro PC, Zerbini MC, et al:  Brief clinical report: Chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract . Am J Med Genet 1983;;15: 291-295.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Ellis RWB, van Creveld S:  Syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: Report of three cases . Arch Dis Child 1940;;15:65-84.
2 +
McKusick VA, Egeland JA, Eldridge R, et al:  Dwarfism in the Amish: I. The Ellis-van Creveld syndrome . Bull Hopkins Hosp 1964;:115: 306-336.
3 +
Smith DW: Recognizable Patterns of Human Malformation: Genetic, Embryologic and Clinical Aspects . Philadelphia, WB Saunders Co, 1982;.
4 +
Taylor GA, Jordan CE, Dorst SK, et al:  Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: The Ellis-van Creveld syndrome . Radiology 1984;;151:393-396.
5 +
Rosemberg S, Carneiro PC, Zerbini MC, et al:  Brief clinical report: Chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract . Am J Med Genet 1983;;15: 291-295.

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