Syndrome of Phocomelic Diabetic Embryopathy (Caudal Dysplasia)

A fetus with upper limb amelia, “caudal regression” and Dandy-Walker defect with an insulin-depedent diabetic mother

“…Of the several anomalies observed in this case, only "caudal regression" (Lenz and Maier 1964;Rusnak and Driscoll 1965;Stern et al 1965;Passarge and Lenz 1966;Fields et al 1968;Ku~era 1971;Assemany et al 1972), gross skeletal malformations (Molsted-Pedersen et al 1964;Ku~era 1971) and congenital heart defects (Ku~era 1971; Rowland et al 1973) appear frequently in the offspring of diabetic mothers.…”

“…Among these malformations, "caudal regression" is best known (Lenz and Maier 1964;Rusnak and Driscoll 1965;Stern et al 1965;Passarge and Lenz 1966;Fields et al 1968;Ku~era 1971;Assemany et al 1972). This defect involves reduction Offprint requests to: Harold J. Bruyere Jr., Department of Pathology, K4/413 University of Wisconsin Clinical Science Center, 600 Highland Avenue, Madison, Wisconsin 53792, USA of coccygeal and sacral vertebral segments, at times with deficiency or absence of the (proximal) femora.…”

Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair

“…Sixty‐six individuals were excluded for the following reasons: Twenty‐one patients did not meet the inclusion criteria, either because they had no characteristic facies (Acker, [Patients 1 and 2]; Assemany, Muzzo, & Gardner, ; Burn, Winter, Baraitser, Hall, & Fixsen, [Patient 4]; Caglayan, Gumus, Yikilmaz, Gumus, & Per, ; Chalbaud, Guerrero, Olavarria, & Padilla, ; Ellis, ; Holmes, ; Katdare, ; Lord & Beighton, [Patients 2 and 4]; Mital, Masalawalla, & Desai, ; Tadmor et al, ; Williamson, 1970 [Patients 2, 3, and 4]), or because they did not have the required lower limb involvement (Castro, Peraza, & Zapata, ; Johnson & Sandison, ; Korkmaz et al, ; Russell & Escobar, ; Williamson, [Patient 1]). Three patients presented a distinct phenotypic pattern suggestive of an alternative diagnosis (Depalma, Duray, & Popeo, ; Gupta, Khatri, Agarwal, & Gupta, ; Verma, Jain, & Jain, ). They presented different anomalies such as fracture of long bones, imperforate anus, bladder anomalies (Depalma et al, ), encephalocele (Verma et al, ), and meningoencephalocele, heart defect and preaxial limb reduction defects (Gupta et al, ), the first two in the absence of karyotype information. Twenty‐nine patients were reported without sufficient information to confirm their diagnosis (Apte, Attarde, Patil, Dahiphale, & Ahirrao, ; Burn et al, [Patient 3]; Cuillier, Carasset, Lemaire, Deshayes, & Alessandri, ; Filly, Robnett‐Filly, & Filly, ; Herreros & Franco, ; Holthusen, [Patient 2]; Inati, Nores, Breg, & Petty, [Patients 1 and 2]; Iohom, Lyons, & Casey, ; Kastanek & Michael, ; Lord & Beighton, [Patients 3, 5–9]; Luisin et al, [Patients 1 and 2]Maisels & Stilwel, [Patients 1 to 3]; McCracken, ; Nowaczyk, Huggins, Fleming, & Mohide, [Patient 3]; Pryde, Zelop, & Pauli, ; Singh, Chandra, Mandal Ravi, & Kumari, ; Urban, Ramus, Stannard, & Rogers, ; Vecchio, Salzano, Vecchio, Di Filippo, & Roccella, ; WooSuk & Song, ; Zierei...…”

New Concepts in Diabetic Embryopathy

“…Caudal regression syndrome, also known as caudal dysplasia, is characterized as the absence or hypoplasia of caudal trunk and limbs (112, 113). Caudal regression syndrome can be diagnosed by noting a shortened spine and abnormal lower limbs.…”