PubMed · 96028
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B Begum, V Banerjee, R Mukherjee, B Chakraborty. 1977. Fraser syndrome -- a case report.. https://pubmed.ncbi.nlm.nih.gov/96028/
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Genes carrying the homeobox were originally identified in Drosophila, in which they are now known to play key roles in establishing segmentation patterns and in determining segment identities. A number of genes with striking homology to the Drosophila homeobox genes have now been found in the mouse genome, and mutational analysis is beginning to shed light on their function in mammalian development. To understand better the developmental significance of the murine Hox-2.2 gene, we have generated gain of function mutants by using the chicken beta-actin promoter to drive ubiquitous expression in transgenic mice. The resulting Hox-2.2 misexpression produces early postnatal lethality as well as craniofacial and axial skeletal perturbations that include open eyes at birth, cleft palate, micrognathia, microtia, skull bone deficiencies, and structural and positional alterations in the vertebral column. We repeatedly observe complete or partial absence of the supraoccipital bone and malformations of the exoccipital and the basioccipital bones. These results suggests a role for the Hox-2.2 gene in specifying positional identity along the anterior-posterior axis.
Lipoatrophic diabetes, known by pediatricians as Lawrence-Seip disease or Berardinelli lipodystrophy syndrome, is an infrequent condition of which approximately one hundred cases have been published to date. A case in a 24-year-old female with a fifteen-year follow-up is reported. Manifestations included acanthosis nigricans, generalized lipoatrophy, hirsutism, muscle hypertrophy, and intellectual impairment. Biologic tests revealed insulin-resistant diabetes mellitus with major diet-dependent type V hypertriglyceridemia. The patient had nephrotic syndrome (focal and segmental endocapillary proliferative glomerulonephritis without dense deposits). Phosphorus and calcium determinations were normal, as were the endocrinologic tests. Roentgenograms of the bones disclosed increased density of axial bones and large epiphyseal defects with increased bone density as determined by osteodensitometric studies. The bone manifestations of this syndrome have been documented but are often overshadowed by the severe metabolic alterations.
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