May 1972, Vol 123, No. 5 >

< Previous Article Next Article >

Article | May 1972

Syndrome of Phocomelic Diabetic Embryopathy (Caudal Dysplasia) FREE

Salma R. Assemany, MD; Santiago Muzzo, MD; Lytt I. Gardner, MD

[+] Author Affiliations

Received for publication July 8, 1971; accepted Dec 30.

Reprint requests to 750 E Adams St, Syracuse, NY 13210 (Dr. Gardner).

Am J Dis Child. 1972;123(5):489-491. doi:10.1001/archpedi.1972.02110110117014.

Text Size: A A A

Published online

Article

References

Comments

ABSTRACT

ABSTRACT | REFERENCES

An infant whose mother was a 17-year-old juvenile diabetic had the syndrome of phocomelic diabetic embryopathy (caudal dysplasia). The infant girl showed cleft palate, abnormal ears, renal abnormalities, and severe peromelia of the lower limbs with the left leg vestigial. Cases of phocomelic diabetic embryopathy have been recognized as a distinct syndrome only since 1964, and occur with prediabetic as well as diabetic mothers. A maternal metabolic defect more subtle than hyperglycemia may cause the caudal dysplasia. It may be similar to "insulin micromelia" produced in chickens by insulin injection of the incubating egg. On the other hand, alloxan diabetes in mice is associated with fetal limb abnormalities. It is not clear whether the human syndrome is related to maternal hyperglycemia or hypoglycemia, or to the direct influence of the insulin molecule.

REFERENCES

ABSTRACT | REFERENCES

Miller HC, personal communication, in Warkany J: Etiology of congenital malformations . Advances Pediat 2:1-63, 1947;.

Blumel J, Evans EB, Eggers GWN: Partial and complete agenesis or malformation of the sacrum with associated anomalies: Etiologic and clinical study with special reference to heredity. A preliminary report . J Bone Joint Surg 41:497-518, 1959;.

Pedersen LM, Tygstrup I, Pedersen J: Congenital malformations in newborn infants of diabetic women: Correlation with maternal diabetic vascular complications . Lancet 1:1124-1126, 1964;.
Link to Article

Lenz W, Maier W: Congenital malformations and maternal diabetes . Lancet 2:1124, 1964;.
Link to Article

Aubertin E, Aubertin J, Gay J: Importance de la valeur du traitment antidiabetique chez les diabetiques encientes . J Med Bordeaux 141:333-340, 1964;.

Passarge E: Congenital malformations and maternal diabetes . Lancet 1:324-325, 1965;.
Link to Article

Kucera J, Lenz W, Maier W: Missbildungen der Beine und kaudalen Wirbelsaule dei Kinderndiabetischer Mutter . Deutsch Med Wschr 90:901-905, 1965;.
Link to Article

Rusnak ST, Driscoll SG: Congenital spinal anomalies in infants of diabetic mothers . Pediatrics 35:989-995, 1965;.

Stern L, Ramos A, Light I: Congenital malformations and diabetes . Lancet 1:1393-1394, 1965;.
Link to Article

Kalitzki M: Congenital malformations and diabetes . Lancet 2:641-642, 1965;.
Link to Article

McCracken JS: Absence of foetal femur and maternal prediabetes . Lancet 1:1274, 1965;.
Link to Article

Passarge E, Lenz W: Syndrome of caudal regression . Pediatrics 37:672-675, 1966;.

Frantz CH, Aitken GT: Complete absence of the lumbar spine and sacrum . J Bone Joint Surg 49:1531-1540, 1967;.

Hiertonn T, Holmgren G, Holmgren E: Agenesis of lumbosacral vertebrae: Surgical and prosthetic management . Prosth Int 3:24-30, 1967;.

Thalhammer O, Lachmann D, Scheibenreiter S: "Caudale Regression" beim Kind einer 18-jährigen Frau mit Prädiabetes . A Kinderheilk 102:346-355, 1968;.
Link to Article

Pfeiffer RA, Lenz W: Skelettmissbildungen der unteren Körperhälfte bei Kindern diabetischer Mutter . Mschr Kinderheilk 116:221-222, 1968;.

Tunnessen WW, Raettig JA: Caudal dysplasia syndrome . Amer J Dis Child 116:407-408, 1968;.

Klein HJ, Fischer R: Diabetic embryopathy . Med Welt 47:2621-2626, 1968;.

Williamson DAJ: A syndrome of congenital malformations possible due to maternal diabetes . Develop Med Child Neurol 12:145-152, 1970;.
Link to Article

Price DL, Dooling EC, Richardson EP Jr: Caudal dysplasia (caudal regression syndrome) . Arch Neurol 23:212-220, 1970;.
Link to Article

Warkany J, Nelson RD: Appearance of skeletal abnormalities in the offspring of rats reared on a deficient diet . Science 92:383-384, 1940;.
Link to Article

Warkany J, Schraffenberger E: Congenital malformations induced in rats by maternal nutritional deficiency: V. Effects of a purified diet lacking riboflavin . Proc Soc Exp Biol Med 54:92-94, 1943;.

Kalter H, Warkany J: Experimental production of congenital malformations in mammals by metabolic processes . Physiol Rev 39:69-115, 1959;.

Landauer W: Insulin-induced abnormalities of beak, extremities and eyes in chickens . J Exp Zool 105:145-172, 1947;.
Link to Article

Brinsmade AB, Büchner F, Rübsaamen H: Missbildungen am Kaninchenembryo durch Insulininjektion beim Muttertier . Naturwissenschaften 43:259, 1956;.

Brinsmade AB: Entwicklungsstorungen am Kaninchenembryo nach Glucose-mangel beim trächtigen Muttertier . Beitr Path Anat 117:140-153, 1957;.

Lichtenstein H, Guest GM, Warkany J: Abnormalities in offspring of white rats given protamin zinc insulin during pregnancy . Proc Soc Exper Biol Med 78:398-402, 1951;.

Ream JR, Weingarten PL, Pappas AM: Evaluation of the prenatal effects of massive doses of insulin in rats . Teratology 3:29-32, 1970;.
Link to Article

Hannah RS, Moore KL: Effects of fasting and insulin on skeletal development in rats . Teratology 4:135-140, 1971;.
Link to Article

Smithberg M, Sanchez HW, Runner MN: Congenital deformity in the mouse induced by insulin . Anat Record 126:441, 1956;.

Smithberg M, Runner MN: Teratogenic effects of hypoglycemic treatments in inbred strains of mice . Amer J Anat 113:479-489, 1963;.
Link to Article

Watanabe G, Ingalls TH: Congenital malformations in the offspring of alloxan-diabetic mice . Diabetes 12:66-72, 1963;.

Horii K, Watanabe G, Ingalls TH: Experimental diabetes in pregnant mice: Prevention of congenital malformations in offspring by insulin . Diabetes 15:194-204, 1966;.

Endo A: Teratogenesis in diabetic mice treated with alloxan prior to conception . Arch Environ Health 12:492-500, 1966;.
Link to Article

Runner MN: Inheritance of susceptibility to congenital deformity: Metabolic clues provided by experiments with teratogenic agents . Pediatrics 23:245-251, 1959;.

Navarete VN, Torres IH, Rivera IR, et al: Maternal carbohydrate disorder and congenital malformations . Diabetes 16:127-131, 1967;.

Zwilling E: The effects of some hormones on development . Ann NY Acad Sci 55:196-202, 1952;.
Link to Article

Lash JW: Normal embryology and teratogenesis: Implications for pathological development from experimental embryology . Amer J Obstet Gynec 90:1193-1206, 1964;.

Figures

Tables

Interactive Graphics

Video

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