Congenital absence of left pericardium in a family

Taysi, Kutay; Hartmann, Alexis F.; Shackelford, Gary D.; Sundaram, Vasantha; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320210111

Cited by 13 publications

References 8 publications

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The developmental field concept

Opitz

Reynolds²

1985

Am. J. Med. Genet.

132

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Identical anomalies produced by such different causes as aneuploidy, gene mutation, teratogenic chemicals, and certain surgical procedures show that embryonic primordia respond as units in the production of anomalies of anatomical structure. Hence, they must also act as units during normal ontogeny. The presence of identical malformations in different mammalian species identifies developmental and anatomical homology by virtue of descent from a common ancestor. These dys- and orthomorphogenetically reactive units are the equivalents of the classical experimental embryologist's epimorphic fields, which are those units of the embryo in which the development of complex structures appropriate to the species is determined and controlled in a spatially coordinated, temporally synchronous, and epimorphically hierarchical manner that expresses both species-nonspecific (that is, phylogenetic) and species-specific genetically coded developmental information. Thus, there is some merit in taking a long view of development.

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The developmental field concept

Opitz

Reynolds²

1985

Am. J. Med. Genet.

132

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Abnormal face, congenital absence of the left pericardium, mental retardation, and growth hormone deficiency

Boscherini¹,

Galasso²,

Bitti³

1994

Am. J. Med. Genet.

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Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome

Rifai¹,

Port-Lis²,

Tabet³

et al. 2009

American J of Med Genetics Pt A

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We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectodermal anomalies. She showed thin, atrophic skin, sparse, brittle, slowly growing hair, oligodontia with abnormally shaped teeth, normal sweating, and normal fingernails, consistent with a diagnosis of ectodermal dysplasia. Array CGH analysis (Agilent 44K) showed the deletion to span 26 Mb, between cytogenetic bands 2q31.2 and 2q33. The deletion leads to hemizygosity for the HOXD cluster and its regulatory elements, COL3A1/COL5A2, GTF3C3, CASP8, CASP10, and SABT2 could perhaps interfere with long range control of DLX1 and DLX2 expression. This girl confirms the existence of a clinically recognizable 2q32 microdeletion syndrome, as recently delineated by Van Buggenhout et al. and confirms a novel putative locus for ectodermal dysplasia on chromosome 2q31q33. We recommend considering cytogenetic and/or molecular screening for del(2q32) in patients with developmental disability and ectodermal dysplasia-like phenotype, including thin skin, oligodontia, dysplastic teeth, and sparse hair.

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Congenital absence of left pericardium in a family

Cited by 13 publications

References 8 publications

The developmental field concept

The developmental field concept

Abnormal face, congenital absence of the left pericardium, mental retardation, and growth hormone deficiency

Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome

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