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PubMed1977

[Apert's syndrome].

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Acrocephalosyndactylia↗
PubMed1981

[Mohr's syndrome : type II orofaciodigital syndrome (author's transl)].

Mohr's syndrome consists of an association of three types of malformation : oral, facial, and digital. It is very similar, therefore, to the syndrome of Papillon-Léage and Psaume. Apart from this, precise, constant characteristics can be recognized which identify it as a separate entity. Firstly, the genetic mode of transmission differs. Secondly, clinical signs are dominated by the frequency and severity of the distal lesions, such that bilateral syndactyly of the big toe is a key element in the differential diagnosis.

Abnormalities, Multiple↗
PubMed1981

Apert's syndrome: (acrocephalosyndactylism).

A case history is presented that illustrates the clinical and radiographic findings of an Apert's syndrome patient. The incidence of this condition at birth is approximately 1:160,000 with a greater frequency found in the children of older parents. A brief comparison is made with two similar syndromes. Carpenter's syndrome and LMBB syndrome. Recognition and diagnosis of each syndrome is difficult due to the phenotypic overlap and is achieved through an understanding of the similarities as well as the difference. In the Apert's syndrome patient, the hand and foot deformities present particular problems regarding everyday performance. The hands of these patients are generally surgically corrected to improve hand function through removal of the syndactylism or partial amputation. However, this was not performed on this patient for he was able to write legibly and had good pincer grasping ability. The feet in the Apert's syndrome patient present unique problems due to the malformations that exist rather than acquired deformities because of excessive joint motion. The structure of the foot is generally compatible with conventional shoewear. If the patient's psychological status warrants it, elective surgical intervention would be indicated to remove hypertrophic bone at weight-bearing areas to relieve pressure.

Abnormalities, Multiple↗
PubMed1982

[Radiology of the infantile hand as a mirror of clinical syndromes (author's transl)].

Significant radiographic findings of the pediatric hand are described as far as they are useful for the diagnosis of a suspected clinical syndrome. Normal variants that can simulate pathological findings are demonstrated. Deviations of skeletal age from chronological age and their clinical significance are discussed. Diagnostically useful malformations (hexadactyly, syndactyly, brachyphalangy, cone shaped epiphyses and anomalies of the thumb) are presented in the context of typical cases of selected syndromes. The importance of establishing a correct diagnosis in these cases is stressed with regard to individual prognosis of the patient and genetic counselling of the family.

Acrocephalosyndactylia↗
PubMed1980

Apert's syndrome.

We report herein a case of Apert's syndrome, which is characterized clinically by cranial, facial, and limb malformations. Acne vulgaris of the upper extremities constitutes the dermatologic hallmark of this rarely reported disorder.

Acne Vulgaris↗
PubMed1984

[Apert syndrome--case report].

The Apert syndrome is a complex deformity. Blauth distinguishes three degrees of deformity in the hand; these are demonstrated in our patients. The functional results after operative treatment were satisfying.

Acrocephalosyndactylia↗
PubMed1978

["Apert's foot" (in acrocephalo-syndactyly) (author's transl)].

The authors discuss foot abnormalities in Apert's syndrome (acrocephalo-syndactyly). Characteristic of these deformities are bilateral, mostly symmetrical syndactlys of the toes; incorrect hyperextension positions of the first toe with large toes in flexed positions; intermetatarsal synostoeses, above all between the first and second metatarsal bones; multiple synostoses in the tarsal region; bi- and monophalanges with pseudo-, delta- or arcuate epiphyses. A classification of Apert's foot is presented, using 68 examples from the literature and 12 cases treated by the authors. The calssification is analogous to the hand deformities in Apert's syndrome. Three types can be distinguished: In type I, toes II-IV are webbed together. However, the large and small toes are still well separated. Syndactilys of toes II-V are present in type II, and all toes have grown together in type III. The deformity can be accompanied by stress pain and difficulties in providing shoes. In this case surgical correction is indicated in childhood: the incorrect position of the large toe is eliminated. Good results can be achieved via osteotomies of the metatarsal bones and resections of the intermetatarsal bone bridges.

Abnormalities, Multiple↗
PubMed1978

Radical forehead remodeling for craniostenosis.

A normal forehead has two parts, shaped differently: (1) the lower part (corresponding to the supraorbital rim and glabellar area) set at a steep angle to the nose; (2) the upper part, sloping gently backward. To reproduce this normal anatomy in cases of cranostenosis affecting the frontal area, we found it essential to mobilize and reshape a supraorbital bar of bone and to transfer a suitable piece of the cranial vault in one piece to make a new upper forehead. By this method we have treated 18 patients with oxycephaly since 1973, with good results. We have also operated on babies with craniostenosis to try to solve simultaneously the functional and the cosmetic problems. In faciocraniostenosis, there are dominant malformations at the base of the skull, but an isolated frontal advancement of two cm has produced gratifying early results.

Acrocephalosyndactylia↗