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PubMed1995

Apert's syndrome and androgen receptor staining of the basal cells of sebaceous glands.

We report two cases of Apert's syndrome, each of whom developed the severe acne in adolescence which is a feature of this disorder. Both responded to isotretinoin therapy. Immunohistochemical techniques, using a mouse monoclonal antibody, were employed to stain sebocyte androgen receptors in the two patients, and in five controls. This showed no difference in the number of cells with androgen receptor expression between the patients with Apert's syndrome and controls. These results support the concept that the underlying problem in Apert's syndrome is an abnormal sensitivity to normal circulating levels of androgens, and not an excess number of androgen receptors.

Acne Vulgaris↗
PubMed2006

Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: a case report.

Apert syndrome is characterized by midface hypoplasia, syndactyly of the hands and feet, proptosis of eyes, steep and flat frontal bones, and premature union of cranial sutures. Maxillary hypoplasia, deep palatal vault, anterior open bite, crowding of the dental arch, severely delayed tooth eruption, and dental malocclusion are the main oral manifestations of this syndrome. In this report, a case of Apert syndrome with glucose-6-phosphate dehydrogenase (G(6)PD) deficiency is presented. The patient, a 4-year-old male and the fourth child of healthy parents, was admitted to our department because of delayed tooth eruption. He had all the cardinal symptoms of the Apert syndrome. Clinical examination revealed that primary centrals, canines and first molars erupted; however, primary second molars and laterals had not erupted. The patient had no dental caries. Preventive treatments were applied, and subsequently, the patient was taken to long-term follow up.

Acrocephalosyndactylia↗
PubMed2006

Apert syndrome.

Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.

Acrocephalosyndactylia↗
PubMed1977

On the classification of the acrocephalosyndactyly syndromes.

This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease. From the observations made in this family and from previous reports in the literature, we feel there is substantial reason to re-evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.

Abnormalities, Multiple↗
PubMed1977

The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis.

Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer syndrome. Six patients in a single family showing Pfeiffer syndrome exhibited this unique MCPP profile which was not present in non-affected family members. Furthermore, three normal-appearing relatives were identified as affected by this technique, and this diagnosis was subsequently confirmed by radiographic and genetic data. The results show that: 1) the MCPP in Pfeiffer and Chotzen syndromes is unique and can be used to make the diagnosis of an ACS syndrome in persons who show few or no clinical stigmata of disease; 2) the MCPP does not discriminate between these two ACS types.

Acrocephalosyndactylia↗
PubMed1977

Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.

This report describes and discusses the very rare occurrence of two heritable traits, the Saethre-Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt-losing type) in a female infant whose father presents the clinical manifestations of Saethre-Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining acrocephalosyndactyly and urogenital anomalies are discussed and compared.

Acrocephalosyndactylia↗
PubMed1986

Germinal mosaicism in Apert syndrome.

Two sisters with Apert acrocephalosyndactyly syndrome born to normal unrelated parents are described. Paternity studies show that the probability of paternity is 99.3%. This report appears to represent the first known example of germinal mosaicism in Apert syndrome.

Acrocephalosyndactylia↗
PubMed1988

Male transmission of Apert syndrome.

This report presents the first example of male transmission of Apert acrocephalosyndactyly syndrome. Female transmission has been reported in the five previous well-documented cases of dominant inheritance of the syndrome.

Acrocephalosyndactylia↗
PubMed1988

Mild expression of the Pfeiffer syndrome.

The acrocephalosyndactylies are a group of conditions with a wide variability of expression. We report a patient with features of the Pfeiffer syndrome (acrocephalosyndactyly type V), initially believed to be a new mutation in her family. Further examination of her mother demonstrated abnormalities of her right thumb which we believe may represent mild expression of the Pfeiffer syndrome. This observation illustrates the variability of phenotypic expression in the Pfeiffer syndrome and underscores the importance of careful investigation of parents and other family members when evaluating individuals with this condition.

Acrocephalosyndactylia↗
PubMed1990

Congenital tracheal stenosis in Pfeiffer syndrome.

We report an infant with Pfeiffer syndrome (acrocephalosyndactyly type V) and a solid cartilaginous trachea lacking rings. This airway abnormality has been reported in a child with Crouzon syndrome but has not been described in Pfeiffer syndrome.

Acrocephalosyndactylia↗
PubMed1991

Saethre-Chotzen syndrome (ACS III) in four generations.

The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in association with abnormalities of the hands and feet. Based on their clinical features, different types of ACS have been described. We here report on a family with 9 individuals affected with ACS III (Saethre-Chotzen syndrome), 5 of them severely. Clinical features of the patients are presented with regard to differential diagnostic delineations.

Acrocephalosyndactylia↗
PubMed1992

Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods.

An indirect method for estimating the birth prevalence of the Crouzon syndrome is presented. The fraction of Crouzon syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in general. Crouzon syndrome makes up approximately 4.8% of all cases of craniosynostosis. Using a weighted average estimate, birth prevalence was calculated to be 16.5/1,000,000. The results of the indirect method compare favorably with those obtained by the direct method. Nevertheless, because the indirect method is based on a number of assumptions that are easily violated, we cannot recommend its general use except under special circumstances.

Acrocephalosyndactylia↗