The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies

Leheup, B.; Masutti, Jean-Pierre; Droullé, P.; Tisserand, Julie

doi:10.1007/bf01991916

Cited by 15 publications

(7 citation statements)

References 11 publications

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“…4,5,12 Other prenatal sonographic features such as hypertelorism, palpebral edema, exophthalmia, polyhydramnios, choanal atresia (demonstrated by lack of communication between the nostrils and nasopharynx by Doppler evaluation), lemon-shaped skull, horseshoe kidneys, renal agenesis, bowing of the ulna, and absence of nasal bones have also been reported. [4][5][6]12,32 In addition to the clinical and sonographic features, ABS/PORD has been associated with extremely low (or undetectable) maternal serum estriol levels, as was evident in this case. Consequently, maternal serum estriol levels may strengthen the prenatal diagnosis of ABS.…”

Section: Discussionsupporting

confidence: 57%

“…2,[5][6][7]20,[27][28][29]31 Other malformations such cardiac defects, renal duplication, large clitoris, imperforate anus, cryptorchidism, fused labia majora, and hydrocephalus have been desc ribed. 2,6,20,32,33 ABS has classically been identified at newborn or childhood examination using radiography, computed tomography, magnetic resonance imaging, or stillbirth autopsy. However, in recent years, ultrasonography has enhanced the prenatal diagnosis of ABS as it is able to document many of the clinical features associated with this syndrome prenatally.…”

Section: Discussionmentioning

confidence: 99%

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Sonographic Diagnosis of Antley-Bixler PORD-Type Syndrome

Ghazle

Newcomb

2014

Journal of Diagnostic Medical Sonography

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Antley-Bixler syndrome (ABS)—consisting of ABS type 1 (skeletal only) and ABS type 2, associated with cytochrome 450 mutations and P450 oxidoreductase deficiency (PORD-ABS)—is a heterogeneous syndrome with a constellation of skeletal deformation findings that classically include skull, facial, and appendicular defects. The hallmarks of ABS type 1 include craniosynostosis, midface hypoplasia, radiohumeral/radioulnar synostosis, arachnodactyly, bowing of the femur, congenital fractures, and choanal atresia. ABS has historically been identified at newborn or childhood examination using radiographic, computed tomography, or stillbirth autopsy. However, in recent years, antenatal ultrasonography has identified craniosynostotic conditions in utero. We present a case of PORD with the ABS phenotype diagnosed by sonography in utero at an early gestation (13–16 weeks), which included mutations in the POR gene. Sonographers, sonologists, and perinatologists aware of the diversity of this rare condition will be well prepared to raise the suspicion of Antley-Bixler PORD-type syndrome.

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Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Sonographic Diagnosis of Antley-Bixler PORD-Type Syndrome

Ghazle

Newcomb

2014

Journal of Diagnostic Medical Sonography

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“…It was observed that while cases of ABS with FGFR2 mutations had normal genitalia [34, 36, 40, 41], reported cases of ABS with apparent autosomal recessive inheritance had genital abnormalities [19, 38, 39, 43]. FGFR2 mutations were found in 7 of 16 ABS patients, but FGFR2 mutations and genital abnormalities segregated completely [19].…”

Section: Antley-bixler Syndromementioning

confidence: 99%

“…The genetics of ABS was initially controversial: reports of affected siblings [37, 38] and parental consanguinity [39] suggested autosomal recessive inheritance, but autosomal dominant fibroblast growth factor receptor 2 (FGFR2) mutations have been found in a number of cases [19, 34, 36, 40, 41]. Fibroblast growth factors (FGFs) are mitogens involved in bone growth and development [42].…”

Section: Antley-bixler Syndromementioning

confidence: 99%

Genetic and Clinical Features of P450 Oxidoreductase Deficiency

2008

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P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder of steroidogenesis with multiple clinical manifestations. POR is the electron donor for all microsomal P450 enzymes, including the three steroidogenic enzymes P450c17 (17α-hydroxylase/17,20-lyase), P450c21 (21-hydroxylase), and P450aro (aromatase). Since the first description of POR mutations in 2004, about 50 patients have been reported. Serum steroid profiles indicate partial deficiencies in 21-hydroxylase, 17α-hydroxylase and 17,20-lyase. The 17-OH progesterone levels are elevated, as in 21-hydroxylase deficiency, while androgen levels are low; cortisol may be normal but is poorly responsive to adrenocorticotropic hormone. Most patients also have associated skeletal malfor- mations (craniosynostosis, radio-ulnar synostosis, midface hypoplasia, bowed femora) termed Antley-Bixler syndrome. Antley-Bixler syndrome with normal steroidogenesis is caused by autosomal dominant gain-of-function mutations in fibroblast growth factor receptor 2. Males with POR deficiency are often undervirilized, while females can be virilized. The prognosis for patients with POR deficiency appears to depend on the severity of the bony malformations and their timely treatment. The potential impact of POR mutations on drug metabolism by other hepatic P450 enzymes requires further investigation. Given the varied physical and biochemical phenotype of POR deficiency and the risk of adrenal insufficiency, clinicians should be alert to this potential diagnosis.

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“…[1] Lehuep et al . (1995) reported two affected sibs,[7] in the first case, renal agenesis was recognized prenatally when oligohydramnios led to the sonographic diagnosis of absent kidneys during the seventh month. Clinical features were recognized by ultrasonography at 21 weeks in the second case.…”

Section: Discussionmentioning

confidence: 99%