Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

Alagille, D; Odièvre, M; Gautier, M; Dommergues, J.P.

doi:10.1016/s0022-3476(75)80706-2

Cited by 627 publications

(323 citation statements)

References 9 publications

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“…It follows autosomal dominant inheritance, in contrast to recessively inherited SCD due to mutated DLL3, MESP2, and LNFG, and in common with most dominantly inherited conditions, it demonstrates marked variability. First described in 1969 (Alagille et al, 1969), it was delineated in 1975 (Alagille et al, 1975) and diagnostic criteria established (Alagille et al, 1987). Table 5 lists the full features of AGS.…”

Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

“…Thus, pulmonary valve or pulmonary artery stenosis, and peripheral pulmonary artery stenosis, are the common lesions, occurring in two thirds of AGS patients (Emerick et al, 1999). However, tetralogy of Fallot is a complex malformation that occurs in up to 10% of patients, and ventricular and atrial septal defects are also seen (Alagille et al, 1975;Kamath et al, 2003). Interestingly, one family has been reported in which congenital heart disease segregates with a JAGGED1 mutation in the absence of hepatic or other features of AGS (Eldadah et al, 2001).…”

Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

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Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

144

120

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Abnormal vertebral segmentation (AVS) in man is a relatively common congenital malformation but cannot be subjected to the scientific analysis that is applied in animal models. Nevertheless, some spectacular advances in the cell biology and molecular genetics of somitogenesis in animal models have proved to be directly relevant to human disease. Some advances in our understanding have come through DNA linkage analysis in families demonstrating a clustering of AVS cases, as well as adopting a candidate gene approach. Only rarely do AVS phenotypes follow clear Mendelian inheritance, but three genes-DLL3, MESP2, and LNFG-have now been identified for spondylocostal dysostosis (SCD). SCD is characterized by extensive hemivertebrae, trunkal shortening, and abnormally aligned ribs with points of fusion. In familial cases clearly following a Mendelian pattern, autosomal recessive inheritance is more common than autosomal dominant and the genes identified are functional within the Notch signaling pathway. Other genes within the pathway cause diverse phenotypes such as Alagille syndrome (AGS) and CADASIL, conditions that may have their origin in defective vasculogenesis. Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing.

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Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

144

120

View full text Add to dashboard Cite

show abstract

“…• In the heart: pulmonic valvular stenosis as well as peripheral arterial stenosis • In the bones: abnormal vertebrae (butterfly vertebrae) and decrease in interpediculate distance in the lumbar spine • In the nervous system: absent deep tendon reflexes and poor school performance • In the facies: broad forehead, pointed mandible, and bulbous tip of the nose • In the fingers: varying degrees of foreshortening (41,42) • The syndrome has an autosomal dominant inheritance, and the gene is located at 20p12 (43). Most often, AGS leads to chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%.…”

Section: Renal Cyst and Ocular Abnormalitiesmentioning

confidence: 99%

Eye and Kidney

Izzedine¹,

Bodaghi

Launay-Vacher³

et al. 2003

Journal of the American Society of Nephrology

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“…Alagille et al [1975] defined clinical criteria for the syndrome as the histological finding of bile duct paucity on liver biopsy in association with three out of the following five major clinical features: cholestasis, butterfly vertebrae, posterior embryotoxon, congenital heart disease, and facial features. Other systems are also involved in AGS and these minor clinical criteria include renal abnormalities and intracranial bleeding [Emerick et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

et al. 2002

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Alagille syndrome (AGS; OMIM 118450) is a complex dominantly inherited multisystem disorder involving the liver, heart, eyes, facies, skeleton, and other systems. Criteria for the clinical diagnosis have been established as the presence of bile duct paucity on liver biopsy in association with three of five major clinical findings (cholestasis, butterfly vertebrae, posterior embryotoxon, congenital heart disease, and facial features). Jagged1 has been identified as the AGS disease gene. Jagged1 is a large gene, with no mutational hot spots, making molecular testing difficult at this time. Other clinical features would prove helpful in establishing the diagnosis in the absence of molecular confirmation. Supernumerary digital flexion creases have been identified in 16/46 (35%) of AGS probands examined through the Alagille Syndrome Diagnostic Center at the Children's Hospital of Philadelphia. Although digital abnormalities have been noted in AGS in the past, including short distal phalanges and fifth finger clinodactyly, digital crease abnormalities have never before been reported. Supernumerary digital creases have been reported in less than 1% of the general population. The presence of extra and missing digital creases in individuals with normal joint anatomy, their occurrence in several syndromes, and mouse in situ expression studies indicate that genetic factors contribute to digital crease formation. However, these factors are poorly understood. Hypotheses regarding the origin of flexion creases are discussed. The identification of supernumerary digital creases in one‐third of AGS probands provides another diagnostic aid and allows for speculation of the role of Jagged1 in the molecular development of digital crease patterns. © 2002 Wiley‐Liss, Inc.

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Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

Cited by 627 publications

References 9 publications

Abnormal vertebral segmentation and the notch signaling pathway in man

Abnormal vertebral segmentation and the notch signaling pathway in man

Eye and Kidney

Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

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