Newborn with Anophthalmia and Features of Fryns Syndrome

Pierson, Diane M.; Subtil, Antonio; Taboada, Eugenio; Butler, Merlin G.

doi:10.1007/s10024-002-2106-2

Cited by 13 publications

(14 citation statements)

References 13 publications

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“…The condition was named Matthew‐Wood syndrome as requested by the parents. Since than seven more cases have been reported [Berkenstadt et al, 1999; Pierson et al, 2002; Steiner et al, 2002; Priolo et al, 2004; Robert Lee et al, 2006; Li and Wei, 2006]. The clinical manifestations in the previously reported cases are summarized in Table I.…”

Section: Discussionmentioning

confidence: 99%

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

Chitayat

Sroka

Keating

et al. 2007

American J of Med Genetics Pt A

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The combination of pulmonary agenesis/dysgenesis/hypoplasia, microphthalmia/anophthalmia, and a diaphragmatic defect (agenesis or eventration) is a rare syndrome presumed to have an autosomal recessive mode of inheritance based on a report of affected siblings born to unaffected parents [Seller et al., 1996]. The condition is known as Spear syndrome and Matthew-Wood syndrome, although genetic heterogeneity cannot be ruled out. We report on eight patients with this condition including a living child, three sibs and three isolated cases. Most presented with fetal ultrasound findings of microphthalmia/anophthalmia, and diaphragmatic eventration/hernia and in five, cardiac abnormalities were also found. The earliest detection was at 20 weeks gestation. This is the second report of sibs affected with this condition, which supports an autosomal recessive mode of inheritance. We present the first and only reported living patient with this condition and expand the intrafamilial, interfamilial, and ethnic variability of this condition. We suggest changing the condition's name to PDAC to reflect the most important components of this condition.

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Section: Discussionmentioning

confidence: 99%

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

Chitayat

Sroka

Keating

et al. 2007

American J of Med Genetics Pt A

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show abstract

“…In the Matthew–Wood syndrome [OMIM 601186], CDH is found with anophthalmia or microphthalmia, pulmonary agenesis, and growth retardation [Spear et al, 1987; Seller et al, 1996; Berkenstadt et al, 1999]. Overlap between the Matthew–Wood syndrome and FS was apparent in one infant who had CDH with severe pulmonary hypoplasia but with prominent pulmonary arteries, bilateral anophthalmia, hypoplasia of the distal phalanges and nails, and craniofacial dysmorphism consistent with FS [Pierson et al, 2002].…”

Section: Discussionmentioning

confidence: 99%

“…The patient described by Arnold et al [2003] had severe facial clefting and gastroschisis and has not definitely been considered to have FS [Hall, 2003]. The proband described by Pierson et al [2002] had clinical features that overlapped with the Matthew–Wood syndrome, and we did not include this infant. We also excluded cases with sparse clinical details [Cunniff et al, 1990 (case 5); Di Meglio et al, 1994; Van Wymersch et al, 1996].…”

Section: Methodsmentioning

confidence: 99%

“…The inclusion of cranial and cardiovascular malformations comprising agenesis of the corpus callosum, arhinencephaly, cardiac septal defects, and persistence of the left superior vena cava has since been proposed [Pinar et al, 1994]. Recent case reports have described new phenotypic features in association with FS such as anophthalmia and microphthalmia [Pierson et al, 2002; Arnold et al, 2003], ectrodactyly [Sheffield et al, 1998], radial ray defects [Jog et al, 2002], and pterygia involving multiple joints [Ramsing et al, 2000]. We have, therefore, decided to review the current diagnostic guidelines in FS and to estimate the frequency of the congenital anomalies in this unusual malformation syndrome.…”

Section: Introductionmentioning

confidence: 99%

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Fryns syndrome: A review of the phenotype and diagnostic guidelines

Slavotinek

2003

American J of Med Genetics Pt A

105

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Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on probands with FS, the diagnostic guidelines were formulated from a review of eight patients and modifications to the guidelines have only once been suggested. Recently, several case reports have described new anomalies in FS and other papers have highlighted the variation in expressivity found in FS. This paper examines the medical literature on FS to define the phenotype and to review the diagnostic guidelines. We conclude that CDH with brachytelephalangy and/or nail hypoplasia is strongly suggestive of the diagnosis and that pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are sufficiently frequent to be diagnostically useful. Other distinctive malformations that are consistent with FS include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, neuronal or cerebellar heterotopias, abnormalities of the aorta, renal cysts, dilatation of the ureters, bicornuate uterus, renal dysplasia, proximal thumbs, and broad clavicles.

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“…No genetic syndrome was mentioned. An accessory spleen was found at autopsy in a newborn with features of Fryns syndrome (Pierson et al 2002). Fryns syndrome in our case was not considered because of the absence of craniofacial malformations or limb abnormalities.…”

Section: Discussionmentioning

confidence: 72%

Myocardial infarction in a neonate with left‐sided congenital diaphragmatic hernia

Verlaak

Backx

Heijst

2009

Congenital Anomalies

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We present a case study of a newborn girl with a left-sided congenital diaphragmatic hernia and a myocardial infarction (MI). The occurrence of MI in newborns has been associated with cardiac malformations and abnormalities of the coronary arteries or thromboembolization. In our patient, echocardiography revealed left ventricular dysfunction, persistent pulmonary hypertension and an inferolateral MI. Within 24 hours cardiac function and oxygenation did not improve and the baby died. Autopsy showed massive MI, a small aortic valve and ascending aorta, and hypoplasia of the distal aortic arch and isthmus. An accessory spleen was also present. The present report underlines the importance of cardiac evaluation in patients with congenital diaphragmatic hernia.

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Newborn with Anophthalmia and Features of Fryns Syndrome

Cited by 13 publications

References 13 publications

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

Fryns syndrome: A review of the phenotype and diagnostic guidelines

Myocardial infarction in a neonate with left‐sided congenital diaphragmatic hernia

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