Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother

Gripp, Karen W.; Barr, Mason; Anadiotis, George; McDonald‐McGinn, Donna M.; Zderic, Stephen A.; Zackai, Elaine H.

doi:10.1002/(sici)1096-8628(19990219)82:5<363::aid-ajmg1>3.3.co;2-h

Cited by 6 publications

(6 citation statements)

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“…Anal atresia/stenosis, for which we identified a FR = 2.81 ( P = 0.03), has been previously reported in IDM, most commonly as part of patterns of multiple congenital anomalies (MCA), such as the urorectal septum malformation sequence, caudal dysgenesis, sirenomelia, or the VACTERL association [Martínez‐Frías et al, 1994; Gripp et al, 1999; Makhoul et al, 2001]. The anomaly in our cases was also part of different patterns of MCA.…”

Section: Discussionsupporting

confidence: 75%

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

Frías

et al. 2007

American J of Med Genetics Pt A

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The aim of this study was to identify congenital anomalies (CA) among infants of women with diabetes mellitus (DM) that, even though infrequent or infrequently reported, may suggest diabetic teratogenesis. Using 1976-2005 data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), we compared the frequency of selected CA among 130 infants with CA born to women with pregestational DM (PGDM) and 30,009 infants with CA whose mothers had normal glucose tolerance (NGT). To identify which CA were not only significantly more frequent among infants of mothers with PGDM, but also more specific, we calculated the quotient of their frequencies (frequency ratio: FR). The same analysis was made using data from 927 infants of mothers with gestational DM (GDM). Among the studied defects, several were statistically significantly more frequent among infants of PGDM mothers than among infants of mothers with NGT, although the specificity of their association with DM varied, as indicated by the values of the FR. These included: anorectal atresia/stenosis (FR = 2.81; P = 0.03), hallucal polydactyly (FR = 3.62; P = 0.002), heterotaxy (FR = 5.70; P = 0.049), hypertrophic cardiomyopathy (HCM) (FR = 61.60; P = 0.000000), multicystic dysplastic kidneys (MDK) (FR = 5.13; P = 0.0002), and thymus aplasia/hypoplasia (FR = 29.62; P = 0.000001). The only CA significantly more frequent among infants of women with GDM were HCM (FR = 8.60; P = 0.002) and MDK (FR = 1.80; P = 0.01). Our results suggest that maternal PGDM should be suspected in children with hallucal polydactyly, anorectal atresia/stenosis, heterotaxy, or aplasia/hypoplasia of the thymus. The presence of transient HCM or MDK in a newborn suggests maternal PGDM or GDM. These observations are important in view of the increasing worldwide frequency of DM and the high proportion of individuals with DM in whom the condition remains undiagnosed. (c) 2007 Wiley-Liss, Inc.

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Section: Discussionsupporting

confidence: 75%

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

Frías

et al. 2007

American J of Med Genetics Pt A

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“…However, we were unable to obtain details on the sister to confirm. Other URSMS examples may be part of a condition with a wider spectrum of malformations [Gripp et al, ].…”

Section: Discussionmentioning

confidence: 99%

A tortuous proximal urethra in urorectal septum malformation sequence?

Lin

Lugo

Tran

et al. 2014

American J of Med Genetics Pt A

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We observed a newborn boy with urorectal septum malformation sequence. Anomalies of the genitalia and rectum were present. He expired on the first day of life, due to severe lung hypoplasia. Autopsy showed a colon that ended in a blind sac, an enlarged bladder with no grossly visible urethra, and dysplastic kidneys. A cone-shaped tissue at the usual site of the bladder outlet contained tortuous and slit-like lumina, suggesting an undeveloped proximal urethra. The urethral structure was lined by transitional epithelium with squamous metaplasia. Many small buds-lined with columnar epithelium-branched from the urethral structure. These ductal buds lined with columnar epithelium stained for prostatic acid phosphatase. Basal cells surrounding the ductal buds stained for p63 and high molecular weight cytokeratin-supporting an interpretation that the buds were early prostatic ducts with normal histology. To our knowledge, these are the first histological images of an undeveloped, obstructed urethra associated with the urorectal septum malformation sequence.

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“…Other rare findings seen with URSM are omphalocele, myelomeningocele, preaxial‐polydactyly and aphallia (Seaver et al. 1994; Gripp et al. 1999).…”

Section: Discussionmentioning

confidence: 99%

Urorectal septum malformation sequence: A report of seven cases

Jain

Sharma

Kulkarni

et al. 2008

Congenital Anomalies

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Urorectal septum malformation (URSM) sequence is an extremely uncommon anomaly. We report herein seven cases of URSM sequence that were identified after reviewing all autopsies conducted at our hospital over a period of 26 years (1981-2006). The URSM spectrum includes partial and full URSM sequences. Absent perineal and anal openings with ambiguous genitalia are included under 'full URSM sequence', and a single perineal or anal opening draining a common cloaca with an imperforate anus is called 'partial URSM sequence'. Of our seven cases of URSM, three were full URSM sequence and four were partial URSM sequence. Associated renal anomalies were found in all of the cases. Three cases had unilateral renal agenesis and one each had bilateral renal agenesis and bilateral renal dysplasia, respectively. The remaining two cases had unilateral renal agenesis with contralateral kidney showing features of cystic dysplastic kidney and renal hypoplasia, respectively. Congenital anomalies involving other organs were also found in some of the cases. The longest survival period in our series was 10 days, in accordance with the short survival period usually associated with URSM. Five of the patients were females, one was male, and the sex of one neonate could not be ascertained. One of the neonates was from a twin pregnancy; the other twin was normal.

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Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother

Cited by 6 publications

References 0 publications

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

A tortuous proximal urethra in urorectal septum malformation sequence?

Urorectal septum malformation sequence: A report of seven cases

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