Concordance of auriculo‐cardiovascular‐skeletal malformations: A new malformation complex in an infant of a diabetic mother?

Berkenstadt, Michal; Shtrausberg, Rachel; Goodman, Richard M.; Katznelson, M B; Goldman, Boleslav; Barkai, Gad

doi:10.1002/ajmg.1320410108

Cited by 6 publications

(4 citation statements)

References 16 publications

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“…Conversely, skeletal, cardiovascular, and genitourinary system malformations, commonly described in infants of diabetic mothers [Berkenstadt et al, 1991], have been seldom observed in patients with hyperinsulinism. None of 17 patients had malformations, but among our large series of 175 hyperinsulinemic patients, 3 had Fig.…”

Section: Discussionmentioning

confidence: 96%

Facial appearance in persistent hyperinsulinemic hypoglycemia

et al. 2002

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Persistent hyperinsulinism is the most common cause of recurrent hypoglycemia in infancy because of inappropriate oversecretion of insulin by the pancreas. Pancreatic lesions can be either focal or diffuse, and they have distinct molecular bases. We have studied the facial features in 17 unrelated patients presenting with neonatal (n = 8) or infancy-onset (n = 9) hyperinsulinism. Hyperinsulinism was related to focal adenomatous hyperplasia (n = 7), diffuse hyperinsulinism (n = 5), non-operated hyperinsulinism (n = 2), and hyperinsulinism with hyperammonemia (n = 3). SUR1 or Kir6.2 mutations were found in six of seven focal adenomatous hyperplasia and three of five diffuse hyperinsulinism. A loss of the maternal allele from chromosome 11p15 in the lesion was found in all focal adenomatous hyperplasia. GLUD1 mutations were found in all patients with hyperammonemia. Large birth weight (mean > 3,800 g) was consistently observed (11/17) but protruding tongue, exomphalos, or visceromegaly were never noted and Wiedemann-Beckwith syndrome could always be ruled out. All patients presented with high forehead, small nasal tip, and short columella giving the impression that the nose is large and bulbous, smooth philtrum, and thin upper lip. A square appearance to the face was more obvious in younger patients. These specific facial features, observed in patients with hyperinsulinism of various molecular mechanisms, could be the consequence of fetal intoxication by insulin. However, to date, facial anomalies have not been noted in infants of diabetic mothers and inversely, malformations that are commonly reported in infants of diabetic mothers were not present in our hyperinsulinemic patients.

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Section: Discussionmentioning

confidence: 96%

Facial appearance in persistent hyperinsulinemic hypoglycemia

et al. 2002

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“…Additional reports also support these associations. Berkenstadt et al [1991] described an infant of a diabetic mother with bilateral microtia and cardiovascular anomalies, and Ziereisen et al [1997] reported on an infant born to a mother with insulin‐dependent diabetes with micrognathia, femoral hypoplasia (a characteristic finding of infants of diabetic mothers), and congenital heart anomalies. They thought that this infant was similar to that reported by Berkenstadt et al [1991] and that they both could have a diabetic fetopathy.…”

Section: Discussionmentioning

confidence: 99%

“…However, craniofacial anomalies have been described in only a small number of reports [Becerra et al, 1990; Johnson et al, 1983; Ramos‐Arroyo et al, 1992]. Patients have been described with the femoral‐facial syndrome [Daentl et al, 1975; Hurst and Johnson, 1980; Johnson et al, 1983] and auricular abnormalities including microtia and preauricular tags as a consequence of maternal diabetes [Berkenstadt et al, 1991; Johnson and Fineman, 1982; Lin et al, 1998].…”

Section: Introductionmentioning

confidence: 99%

Oculoauriculovertebral abnormalities in children of diabetic mothers

Toland¹,

Yankowitz²,

Winder³

et al. 2000

Am. J. Med. Genet.

116

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Maternal diabetes is known to have teratogenic effects. Malformations including neural tube defects, caudal dysgenesis, vertebral defects, congenital heart defects, femoral hypoplasia, and renal anomalies are described in infants of diabetic mothers. However, craniofacial anomalies have rarely been reported in such infants. Here we document craniofacial anomalies of patients born to diabetic mothers. We describe two patient populations: individuals evaluated through our genetics services for multiple malformations and individuals identified through a database search in our craniofacial clinic. The first group consists of 14 individuals evaluated in our genetics clinics who were born to diabetic mothers and had craniofacial anomalies. The second group consists of seven individuals who were identified from a craniofacial database search of patients with hemifacial microsomia and who were born to diabetic mothers. Thus, both groups were born to diabetic mothers and had hemifacial microsomia (67%), microtia (52%), hearing loss (43%), epibulbar dermoids (24%), and fused cervical vertebrae (24%). Therefore, the teratogenic effects of maternal diabetes probably include such craniofacial malformations as the oculoauriculovertebral/Goldenhar complex. Infants of diabetic mothers should be evaluated for craniofacial anomalies. Conversely, mothers of infants with craniofacial anomalies should be evaluated for diabetes to aid in counseling concerning cause and recurrence risks.

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“…Johnson and Fineman 1982 reported on two patients, offspring of diabetic mothers, with bilateral preauricular tags, microtia, and tetralogy of Fallot, truncus arteriosus, and hemivertebrae. Berkenstadt et al 1991 and Ziereisen et al 1997 reported infants of a diabetic mother with ear and congenital heart anomalies. Because our patient had OAVS and CRS together, we hypothesized that the overall patient diagnosis was AMDS.…”

Section: Discussionmentioning

confidence: 99%

Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes

Dinleyici¹,

Tekin²,

Dinleyici³

et al. 2007

American J of Med Genetics Pt A

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Axial mesodermal dysplasia spectrum (AMDS) includes the features of other malformation complexes or sequences, such as oculo-auriculo-vertebral spectrum (OAVS) and sacral dysgenesis. We describe a new patient, an infant born to a type 1 diabetic mother, with the phenotype of AMDS as well as severe congenital cardiac anomalies including transposition of the great arteries and an atrioventricular septal defect. Congenital heart defects had been reported with OAVS, sacral dysgenesis, and in an infant born to a diabetic mother and combinations of these findings have been reported in the same patient. To our knowledge, this is the first patient with AMDS with transposition of great arteries and an atrioventricular septal defect and the second patient with AMDS who had history of parental consanguinity. The mechanism through which maternal diabetes mellitus leads to malformations is not entirely clear, but the glycemic control is essential in the care of mothers.

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Concordance of auriculo‐cardiovascular‐skeletal malformations: A new malformation complex in an infant of a diabetic mother?

Cited by 6 publications

References 16 publications

Facial appearance in persistent hyperinsulinemic hypoglycemia

Facial appearance in persistent hyperinsulinemic hypoglycemia

Oculoauriculovertebral abnormalities in children of diabetic mothers

Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes

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