Polyasplenia complex with mesocardia and renal agenesis in an infant of a diabetic mother

González, Alfonso; Krassikoff, Natalie; Gilbert‐Barness, Enid

doi:10.1002/ajmg.1320320404

Cited by 19 publications

(8 citation statements)

References 25 publications

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“…Thus, these aspects are in agreement with the results of the present study that strongly suggest that maternal diabetes mellitus (which acts during blastogenesis) is related to heterotaxia, particularly transposition of great vessels and transposition of viscera. This is also in agreement with the results of Becerra et al [1990], the experimental study of Morishima et al [1996], and the previous clinical observations [Gonzalez et al, 1989; Carey et al, 1991; Slavotinek et al, 1996; Lin et al, 1998; Guerritsen et al, 1999; Splitt et al, 1999; J.M. Graham, personal communication].…”

Section: Discussionsupporting

confidence: 91%

“…There are previous publications focused on the possible relationship between maternal diabetes and malformed infants presenting heterotaxia‐asymmetry defects [Gonzalez et al, 1989; Slavotinek et al, 1996; Lin et al, 1998; Splitt et al, 1999]. Up to eight other malformed infants of mothers with diabetes mellitus, who also had heterotaxia‐asymmetry problems, have been described [Carey et al, 1991; Guerritsen et al, 1999; JM Graham, personal communication], and these authors concluded that heterotaxia should be considered as diabetic‐related malformations.…”

Section: Discussionmentioning

confidence: 99%

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Heterotaxia as an outcome of maternal diabetes: An epidemiological study

Martínez‐Frías

2001

Am. J. Med. Genet.

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There are very few publications on the possible relationship between maternal diabetes and infants presenting heterotaxia-asymmetry defects. In mice, there is a relationship between maternal diabetes and heterotaxia, although this is influenced by the fetal genotype. An epidemiological analysis of heterotaxia-asymmetry in children born to diabetic mothers (diabetes mellitus or gestational diabetes) is presented here. The analysis is based in the case-control study of the ECEMC database. However, due to the very small sample size for each type of study of heterotaxia-asymmetry alterations, up to 10 control infants for each case were selected. Although the sample size is small, the results suggest that only maternal diabetes mellitus significantly increases the risk for transposition of great vessels (OR=61.87; CI:7.36-519.82), and transposition of viscera (OR=24.82; CI;1.84-335.44).

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Heterotaxia as an outcome of maternal diabetes: An epidemiological study

Martínez‐Frías

2001

Am. J. Med. Genet.

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“…Infants born to diabetic mothers have a three‐ to sixfold higher rate of malformation than infants born to nondiabetic mothers [Kučera, 1971; Pederson et al, 1964]. Caudal dysgenesis is classically linked to maternal diabetes [Williamson, 1970], but many other types of anomalies including congenital heart defects, renal anomalies, and neural tube defects are described frequently [Gonzalez et al, 1989; Khoury et al, 1989; Novak and Robinson, 1994; Robin et al, 1996; Tyral, 1996]. 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].…”

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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“…An association of aural, cardiac, vertebral, and C.N.S. malformations in 5 IDMs was reported by Grix et al [19821. Recently, 3 more associations were described in infants of mothers with diabetes mellitus: VACTERL, midline defects, and prelpostaxial acrofacial dysostosis [Khoury et al, 1989;Gonzalez et al, 1989;RichieriCosta and Guion-Almeida, 19891.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 1991

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The incidence of malformations among infants of diabetic mothers (IDM) is known to be higher than in the general population. These malformations usually involve several organ systems and in the past few years there has been an attempt to group them into distinct "syndromes." The present report concerns a child with a specific constellation of findings not yet reported in the infant of a diabetic mother, and we urge our colleagues to look for other associations existing in these infants, rather than just listing series of individual malformations.

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Polyasplenia complex with mesocardia and renal agenesis in an infant of a diabetic mother

Cited by 19 publications

References 25 publications

Heterotaxia as an outcome of maternal diabetes: An epidemiological study

Heterotaxia as an outcome of maternal diabetes: An epidemiological study

Oculoauriculovertebral abnormalities in children of diabetic mothers

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

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