Congenital diaphragmatic hernia associated with homolateral upper limb malformation: A study of possible pathogenesis in four cases

McCredie, Janet; Reid, Ian S.

doi:10.1016/s0022-3476(78)80145-0

Cited by 38 publications

(24 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The limb reductions previously described have included severe phocomelia with small ossicles and digits articulating with a hypoplastic scapula, hypoplastic humerus and forearm, absent radius and missing digits, and hypoplastic forearm and digits. 5,9,10 In our patient the homolateral limb reduction was essentially complete. Only a malformed scapula was present on the left side.…”

supporting

confidence: 51%

Diaphragmatic Hernia With Homolateral Limb Reduction

Herman

Siegel

2001

J Perinatol

View full text Add to dashboard Cite

supporting

confidence: 51%

Diaphragmatic Hernia With Homolateral Limb Reduction

Herman

Siegel

2001

J Perinatol

View full text Add to dashboard Cite

“…Neural crest cells possibly also participate in the formation of the diaphragm [McCredie and Reid, 1978] and of the derivatives of the intermediate mesoderm, including the Mü llerian duct, the mesonephros, and the mesonephric duct from which the ureteric bud arises [Le Douarin, 1982;Sariola et al, 1989]. Renal anomalies are reported in 38% and genital anomalies in 78% of the cases of Fryns syndrome.…”

Section: Discussionmentioning

confidence: 99%

Variability in the phenotypic expression of Fryns syndrome: A report of two sibships

et al. 2000

View full text Add to dashboard Cite

We report on two sibships with four fetuses of 12, 15, 17, and 20 weeks of gestation, respectively, and 1 preterm baby of 31 weeks of gestation affected by a multiple congenital disorder with manifestation suggestive of Fryns syndrome. In addition to the characteristic malformation pattern in Fryns syndrome, they presented with fetal hydrops, cystic hygroma, and multiple pterygias, allowing prenatal ultrasound diagnosis as early as in the 11th week of gestation. The two affected fetuses of family 1 showed severe craniofacial anomalies with bilateral cleft lip and palate, acral hypoplasia, postaxial oligodactyly, persistent truncus arteriosus, and interrupted aortic arch, asplenia sequence, and complex central nervous system midline malformations. In family 2 with three affected sibs, ear anomalies with atresia of the auditory canals, postaxial hexadactyly, intestinal atresias, callosal defects, and eye colobomas were the most outstanding features. On the basis of the present findings and former reports, the inter- and intrafamiliar phenotypic variability in Fryns syndrome, possible pathogenetic mechanisms, and the value of prenatal diagnosis are discussed. In the pathogenetic discussion, a special emphasis is put on the neural crest cell developmental field.

show abstract

“…This is also in agreement with observations from population-based studies on limb deficiencies, where diaphragmatic defects occurred in 3 of 18 liveborn cases with complete absence of the lower limbs [Froster and Baird, 19901. Five sporadic cases were described by McCredie and Reid [1978], with a combination of limb deficiencies and diaphragmatic hernia. There are several syndromes which can clearly be differentiated on clinical criteria: The syndrome described by Fryns et al [19791 has only smaller acral defects of the limbs (such as hypoplastic fingernails and distal phalanges), cloudy cornea, and holoprosencephaly.…”

Section: Discussionmentioning

confidence: 99%

Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: A distinctive malformation syndrome

Froster¹,

Kolditz²,

Wisser³

et al. 1996

Am. J. Med. Genet.

View full text Add to dashboard Cite

We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes, and ossification defects of the skull. This specific spectrum of anomalies is not fully compatible with that of any established syndrome. No prenatal exposure to any possible teratogen was found. Family history is suggestive for autosomal recessive inheritance, even though germ-line mosaicism in one of the parents cannot completely be excluded.

show abstract

Congenital diaphragmatic hernia associated with homolateral upper limb malformation: A study of possible pathogenesis in four cases

Cited by 38 publications

References 16 publications

Diaphragmatic Hernia With Homolateral Limb Reduction

Diaphragmatic Hernia With Homolateral Limb Reduction

Variability in the phenotypic expression of Fryns syndrome: A report of two sibships

Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: A distinctive malformation syndrome

Contact Info

Product

Resources

About