A case of the orocraniodigital (Juberg-Hayward) syndrome.

Nevin, N. C.; Henry, P.; Thomas, P

doi:10.1136/jmg.18.6.478

Cited by 20 publications

(10 citation statements)

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“…Nevin et al [1981] reported a female patient with JHS with characteristic digital anomalies (distally placed thumbs and soft tissue syndactyly), cleft lip and palate, short stature, and microcephaly, but of normal intelligence and with no limitation of elbow movement. She also had hypertelorism and arched eyebrows with a medial flare.…”

Section: Discussionmentioning

confidence: 99%

Further case of aminopterin syndrome sine aminopterin in a Spanish child

García‐Miñaúr

Botella

2000

Am. J. Med. Genet.

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We report on a Spanish child with clinical manifestations suggestive of aminopterin syndrome sine aminopterin (ASSA), having unusual hair pattern, syndactyly of fingers and toes, low-set thumbs, high-arched palate, and mild developmental delay. However, he does not show other characteristic features of ASSA such as ossification defects of the cranium, microcephaly, hypertelorism, cryptorchidism, or growth retardation. Differences from and similarities with Juberg-Hayward syndrome are discussed. Because few patients have been reported so far it is difficult to distinguish between these two conditions, and it may be that they are variants of the same nosological entity. Consanguinity of parents in this family supports autosomal recessive inheritance of ASSA.

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Section: Discussionmentioning

confidence: 99%

Further case of aminopterin syndrome sine aminopterin in a Spanish child

García‐Miñaúr

Botella

2000

Am. J. Med. Genet.

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“…In addition to these abnormalities, low birth weight and short stature are constant findings, features of a widespread skeletal disorders are more variable, and there may be associated renal abnormalities [8, 9]. The severity and extent of congenital anomalies vary among affected individuals.…”

Section: Discussionmentioning

confidence: 99%

A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

Konca

Caliskan

Taş

2013

Case Reports in Medicine

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Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney case that had mega cisterna magna, arachnodactyly, and mild mental retardation. Case Report. A 9-year-old boy admitted because of the myoclonic jerks. He had a dysmorphic face, low-set and cup-shaped ears, arachnodactyly, and mild mental retardation. The patient's laboratory findings were normal except for a mild leucocytosis and hypochromic microcytic anemia. His cerebrospinal fluid was cytologically and biochemically normal. Cranial MRI revealed 1.5 cm diametered mega cisterna magna in the retrocerebellar region. Although there were no significant epileptical discharges in the electroencephalography, there were slow wave discharges arising from the anterior regions of both hemispheres. Because he had stomachache, abdominal ultrasonography was performed, and horseshoe kidney was determined. Abdominal CT did not reveal any abnormalities except the horseshoe kidney. There were not any cardiac pathologies in echocardiography. He had normal 46XY karyotype and there were no repeated chromosomal derangements, but we could not evaluate for molecular and submicroscopic somatic changes. He was treated with valproic acid and myoclonic jerks did not repeat. Conclusion. We suggest that the presence of these novel findings may represent a newly recognized, separate syndrome.

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“…Since the first report in 1969, only postnatal cases have been reported out of the 12 cases described in literature (Juberg and Hayward, 1969;Nevin et al, 1981;Kingston et al, 1982;Verloes et al, 1992;Kantaputra and Mongkolchaisup, 1999;Garcia-Minaur and Botella, 2000;Silengo and Tornetta, 2000;Reardon et al, 2001;Hedera and Innis, 2003). It is worth nothing that more than the half of the patients were reported before 1982 (Juberg and Hayward, 1969;Nevin et al, 1981;Kingston et al, 1982), and ultrasound scan performance has considerably improved since then. Intrauterine growth restriction with oligohydramnios was only mentioned once by Verloes et al (1992).…”

Section: Discussionmentioning

confidence: 99%

“…Juberg-Hayward syndrome, also called orocraniodigital syndrome (MIM 216 100), was first described in 1969 by Juberg and Hayward in five of six sibs presenting with cleft lip and palate, microcephaly, hypertelorism, hypoplastic and distally positioned thumbs, limited extension of the elbows because of anterior displacement of the radial head, and short stature (Juberg and Hayward, 1969). To date, 12 cases have been reported in the literature (Nevin et al, 1981;Kingston et al, 1982;Verloes et al, 1992;Kantaputra and Mongkolchaisup, 1999;Garcia-Minaur and Botella, 2000;Silengo and Tornetta, 2000;Reardon et al, 2001;Hedera and Innis, 2003). Clinical features of Juberg-Hayward syndrome were reviewed and further delineated by Verloes et al (1992) and Kantaputra and Mongkolchaisup (1999).…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of Juberg-Hayward syndrome

et al. 2005

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Juberg-Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg-Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg-Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate.

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A case of the orocraniodigital (Juberg-Hayward) syndrome.

Cited by 20 publications

References 1 publication

Further case of aminopterin syndrome sine aminopterin in a Spanish child

Further case of aminopterin syndrome sine aminopterin in a Spanish child

A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

Prenatal diagnosis of Juberg-Hayward syndrome

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