Syndrome of Phocomelic Diabetic Embryopathy (Caudal Dysplasia)

Assemany, Salma Regina

doi:10.1001/archpedi.1972.02110110117014

Cited by 10 publications

(5 citation statements)

References 25 publications

(1 reference statement)

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“…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...…”

Section: Resultsmentioning

confidence: 99%

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

Lacarrubba-Flores

Carvalho

Ribeiro

et al. 2018

American J of Med Genetics Pt A

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Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, cleft palate, and other minor dysmorphisms. The evaluation of 14 unpublished Brazilian patients, prompted us to make an extensive literature review comparing both sets of data. From 120 previously reported individuals with FFS, 66 were excluded due to: not meeting the inclusion criteria (n = 21); not providing sufficient data to ascertain the diagnosis (n = 29); were better assigned to another diagnosis (n = 3); and, being fetuses of the second trimester (n = 13) due to the obvious difficult to confirm a typical facies. Clinical-radiological and family information from 54 typical patients were collected and compared with the 14 new Brazilian patients. The comparison between the two sets of patients did not show any relevant differences. Femoral involvement was most frequently hypoplasia, observed in 91.2% of patients, and the typical facies was characterized by micrognathia (97%), cleft palate (61.8%), and minor dysmorphisms (frontal bossing 63.6%, short nose 91.7%, long philtrum 94.9%, and thin upper lip 92.3%). Clubfoot (55.9%) was commonly observed. Other observed findings may be part of FFS or may be simply concurrent anomalies since maternal diabetes is a common risk factor. While maternal diabetes was the only common feature observed during pregnancy (50.8%), no evidence for a monogenic basis was found. Moreover, a monozygotic discordant twin pair was described reinforcing the absence of a major genetic factor associated with FFS.

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Section: Resultsmentioning

confidence: 99%

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

Lacarrubba-Flores

Carvalho

Ribeiro

et al. 2018

American J of Med Genetics Pt A

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“…These include The Kuskokwim Syndrome [64,86], Mietens syndrome [59], Weyers oligodactyly syndrome [85], Roberts pseudothalidomide syndrome [28], CAD complex [77]/Neu Laxova syndrome [75], Sacral agenesis (caudal regression) [3]/meningomyelocele, chromosome defects [ 16, 631 severe amyoplasia [38].…”

Section: Other Conditions With Limb Pterygiamentioning

confidence: 99%

Limb pterygium syndromes: A review and report of eleven patients

Hall

Reed

Rosenbaum³

et al. 1982

Am. J. Med. Genet.

160

119

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Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.

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“…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.…”

Section: Discussionmentioning

confidence: 72%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 1980

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We describe the fetus delivered to an insulin-dependent diabetic woman who had had a previous large, stillborn, non-malformed male infant and a normal female infant. The present fetus had a most unusual combination of malformations which to date had not been described in diabetic embryopathy. The anomalies include: upper limb amelia, "caudal regression" with bilateral absence of the fibulae, unilateral absence of a femur and ipsilateral oligodactyly; undescended testes; atrial septal defect; multiple vertebral and rib anomalies with cervical scoliosis and right webbed neck; left cleft lip and cleft palate; severe micrognathia; left microtia with atresia of the ear canal; and central nervous system defects including hydrocephalus with the Dandy-Walker malformation, asymmetry of the lateral ventricles, abnormal frontal gyral formation, and ependymal and ganglion cell heterotopias of the spinal cord. The pathogenesis of diabetic embryopathy is discussed.

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Syndrome of Phocomelic Diabetic Embryopathy (Caudal Dysplasia)

Cited by 10 publications

References 25 publications

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

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

Limb pterygium syndromes: A review and report of eleven patients

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

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