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PubMed1998

Four cases of amelia of the upper limb associated with anal atresia--is this VACTERL with extreme limb involvement?

Amelia is an extremely rare abnormality with a highest reported incidence of 1 in 67,500 liveborn infants. We now report four cases in each of which amelia involving one upper limb occurred in association with anal atresia. The pattern of other abnormalities present in these cases suggests that this combination of amelia and anal atresia falls within the spectrum of the VACTERL association.

Abnormalities, Multiple↗
PubMed1998

Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.

Only few cases with an interstitial deletion of chromosome 14 have been described so far. We report on a 21-month-old girl with an interstitial deletion of the long arm of chromosome 14, del(14)(q22.1q23.2). She presented with bilateral anophthalmia, absent left external auditory canal, facial asymmetry, microretrognathia, hypotonia, and psychomotor retardation. Skeletal X-rays showed lambdoid craniosynostosis, a very small sella turcica and cervical vertebral anomalies. Brain MRI showed the absence of the optic chiasm, an hypoplastic pituitary gland, and cortical atrophy. No cardiac or abdominal malformations were found. Two other patients with a similar deletion, (del(14)(q22.1q23) and del(14)(q22.1q22.3)), are described. Both presented with bilateral anophthalmia and absent pituitary or hypogonadism. These three cases suggest that the region 14q22 is important for eye and pituitary development. Interestingly, the human BMP-4 gene, a member of the TGF-beta superfamily, maps to 14q22-q23 and may play a role in pituitary and eye development.

Abnormalities, Multiple↗
PubMed1997

Cell death in exorbital lachrymal gland of anophthalmic mutant rat during postnatal development.

Regression in the exorbital lachrymal gland was observed in congenital blind mutant rats lacking eyeballs and optic nerves. The morphological changes during postnatal development in acinar cells of the lachrymal gland of mutant rats were compared with those of normal rats at day 13 (before the opening of the eyes), day 30 (15 days after opening of the eyes) and the adult (90 days). Atrophy of the lachrymal gland is most likely to be associated with absence of functional signals. During regression, there is a massive elimination of cells from the acini; no fibrosis or immune reaction (lymphocytic infiltration) was observed in the gland. This atrophy in the lachrymal gland of blind rats was not associated with the biochemical markers of apoptosis. Present observations indicate that cell elimination from the lachrymal gland in blind rats is a special type of apoptosis, where cell homeostasis is not required.

Animals↗
PubMed1998

Restoration of the anophthalmic socket with secondary implantation of a coralline hydroxyapatite sphere.

BACKGROUND AND OBJECTIVE: Restoration of the anophthalmic socket to improve the aesthetic result on the face. PATIENTS AND METHODS: The authors describe variations in the technique of secondary orbital implantation in 10 patients using the scleral-wrapped hydroxyapatite (HA) sphere implant. Secondary implantation was performed in 4 patients without a previously inserted orbital implant, in 4 patients as an exchange procedure with a preexisting orbital implant, and in 2 patients with eviscerated eyes. Two of these patients proceeded with the drilling operation. RESULTS: All 10 patients achieved a better facial appearance. There were no postoperative complications during the follow-up period of between 6 and 53 months. CONCLUSION: Based on the authors' experience, secondary implantation of the HA sphere is a procedure of choice with no complications, but requires considerable skill and patience on the part of the surgeon.

Adolescent↗
PubMed1976

[Anophthalmia and accompanying malformations (author's transl)].

Six children with bilateral or unilateral anophthalmia were described. Malformations of the face and the extremities, stunted growth, hydrocephalus, muscle hypotony and mental retardation in varying degrees and combinations were also found. The genesis is not clear. With two siblings who exibited a combination which has not been described previously of anophtalmia on one side and microphthalmia on the other together with a cutaneous hexadactyly, the fact that the combination occurs in both children and that the mother exibits a "incomplete form" (?) of the ophthalmologic symptom tends to indicate that the cause is genetic.

Abnormalities, Multiple↗