Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings

Hunter, Alasdair G. W.; Rothman, Stanley; Hwang, W. S.; Deckelbaum, Richard J.

doi:10.1111/j.1399-0004.1974.tb00636.x

Cited by 35 publications

(10 citation statements)

References 14 publications

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“…The authors suggest that their patients represent a new autosomal recessive syndrome, different from Meckel, SLO-I1 and Joubert syndromes. Hunter et al (1974) described a brother and a sister with CRD, hepatic fibrosis, mental deficiency, colobomas of choroid, choreoathetosis, ataxia and PP (the latter was observed only in the male). It is not clear whether it is a separate entity or a variant of the "Casamassima*" syndrome.…”

Section: Discussionmentioning

confidence: 99%

The cerebro‐reno‐digital syndromes: a new community

Lurie¹,

Lazjuk²,

Korotkova³

et al. 1991

Clinical Genetics

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Two “new” syndromes of multiple congenital malformations with autosomal‐recessive inheritance are presented. One syndrome, found in 2 sibs of nonconsanguineous parents, included microcephaly, agenesis of the corpus callosum, pterygium colli, cystic renal dysplasia (CRD) and postaxial polydactyly (PP). The other, found in 2 female sibs of consanguineous parents, included micropolygyria, CRD, PP, and polysplenia. The literature review allows the delineation of a community of 19 “cerebro‐reno‐digital” syndromes with autosomal recessive inheritance, 14 of which include cerebral anomalies, CRD and PP. Three more autosomal recessively inherited syndromes had CRD (or renal fibrosis) and cerebral anomalies (without digital anomalies), three others involved cerebral and digital anomalies (without renal anomalies), and one further syndrome showed CRD and ectrodactyly (without cerebral defects). Such phenotypical similarity may be attributed to the fact that there are common links in the pathogenesis of the syndromes under study.

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Section: Discussionmentioning

confidence: 99%

The cerebro‐reno‐digital syndromes: a new community

Lurie¹,

Lazjuk²,

Korotkova³

et al. 1991

Clinical Genetics

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“…COACH syndrome (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis; MIM# 216360) is a rare autosomal recessive multisystemic disorder first described in 1974 in two siblings (Hunter, 1974), and later delineated as a distinct clinical entity by Verloes and Lambotte (1989). In 1997, Maria and coworkers described a peculiar midbrain-hindbrain malformation, which they termed “molar tooth sign” (MTS), characterized by cerebellar vermis hypo-dysplasia, thickening and horizontalization of superior cerebellar peduncles and deepening of the interpeduncular fossa (Maria et al, 1997).…”

Section: Introductionmentioning

confidence: 99%

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

et al. 2009

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The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs.

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“…The facial dysmorphy is a characteristic only in early childhood and consists of a broad nasal bridge and massive nasal tip, anteverted nostrils, mild strabismus, and prominent mouth with down-turned corners; as the patient ages, the face becomes unspecific. Labrune et al [6] believed that this disorder is related to the disorders reported earlier by Hunter et al [2], Thompson and Baraitser [3], and Smith et al [4]. However, we believe that the disorder reported by Labrune et al is distinct from those reported early [3,4] because no characteristic proximal implantation of thumbs is mentioned in the cases of these authors.…”

Section: Discussionmentioning

confidence: 68%

“…The majority of more than 100 genetically determined disorders are inherited by autosomal recessive transmission, including the most common syndrome, ARPKD [1,[7][8][9][10]. However, severe mental retardation is a very rare symptom of disorders associated primarily with polycystic kidneys and hepatic fibrosis [2,3,6] and is not associated with ARPKD, which was excluded in our family by haplotype analysis. All other known syndromes with polycystic kidneys were also excluded in the differential diagnosis (e.g.…”

Section: Discussionmentioning

confidence: 99%

“…There are 181 genetically determined entities related to polycystic kidneys and 105 to hepatic fibrosis included in the Online Mendelian Inheritance in Man (OMIM) system [1]. Growth retardation is a common symptom of these entities, but developmental and mental retardation are only rarely manifested [2][3][4], although intrafamilial phenotypical variability is significant [5]. In 1990, Labrune et al described a new syndrome of congenital hepatic fibrosis, cystic kidneys, mental retardation, hand anomalies, and facial dysmorphy [6].…”

Section: Introductionmentioning

confidence: 99%

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Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

et al. 2009

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A family with three children affected with congenital polycystic kidneys, hepatic fibrosis, mental retardation, minor anomalies of the hands, and dysmorphic facial features is reported. All children progressed to chronic renal failure. Linkage to the locus for autosomal recessive polycystic kidney disease was excluded by haplotype analysis. The family is endogamic, and the affected siblings are of both sexes, which is in agreement with an autosomal recessive determination of this syndrome. A similar syndrome was reported in 1990 by Labrune et al. [J Pediatr Gastroenterol Nutr (1990) 10:540-543]. Our report provides further evidence for the etiological heterogeneity of polycystic kidney with hepatic fibrosis. The syndrome reported here should be considered in the differential diagnosis of the early manifestation of polycystic kidneys. Mental retardation and hand anomalies are the hallmarks for the differential diagnosis of this syndrome.

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Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings

Cited by 35 publications

References 14 publications

The cerebro‐reno‐digital syndromes: a new community

The cerebro‐reno‐digital syndromes: a new community

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

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