Femoral hypoplasia-unusual facies syndrome: a genetic syndrome?
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Abnormalities, Multiple↗
Biomedical subjects
V Escobar
Publications and source records attributed to V Escobar.
Popliteal pterygium syndrome: a phenotypic and genetic analysis.
Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the ones reported here, evidence is presented that supports an autosomal dominant mode of inheritance for this syndrome. Analysis of previous familial cases showed a large degree of between and within-family variation. The segregation analysis supports the dominant hypothesis (P=0.5).
Adolescent↗
Linkage studies in Van der Woude syndrome.
A newly ascertained kindred segregating Van der Woude syndrome through four generations is described. Linkage studies using the methods of Ott (1974) were carried out using 19 marker loci.
Amylases↗
Linkage analysis in dominant acrocephalosyndactyly.
Linkage analysis was performed on a previously reported family in which multiple dominantly inherited acrocephalosyndactyly syndromes were present. An underlying axiom of linkaged analysis is that the trait analysed be monogenic. This prerequisite was presumptively established in the single kindred analysed because acrocephalosyndactyly was observed in multiple cases in multiple generations.
Acrocephalosyndactylia↗
The inheritance of immunoglobulin levels.
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Age Factors↗
The facio-genito-popliteal syndrome.
In summary, we have presented data supporting the variable expression of an autosomal dominant gene that produces a spectrum of facial, genital, and musculo-skeletal abnormalities. We are not in the position to completely rule out genetic heterogeneity but on the basis of the data presented we feel confident in stating that the popliteal pterygium syndrome, in most cases, is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance.
Child↗
The dentition of the Queckchi Indians. Anthropological aspects.
The incidence of nine minor dental traits, in 540 Queckchi Indians from Guatemala is reported. A combination of frequencies of neither Caucasoid nor Mongoloid groups was observed. The apparently Caucasoid elements of their tooth morphology might well be the result of admixture with Spanish genes during the conquest.
Dentition↗
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↗
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↗
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↗
Maxillofacial dysostosis.
Four individuals in a single family affected with maxillofacial dysostosis are reported. Maxillary hypoplasia, delayed onset of speech, and poor development of language skills without associated hearing loss are the main characteristics of the syndrome which is transmitted as an autosomal dominant. Cephalometric analysis and speech and hearing evaluation of our patients confirmed the above findings.
Adolescent↗
Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect?
Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of brachydactyly, syndactyly, and polydacytly. Although considerable phenotypic overlap exists, these syndromes are considered by most investigators to be the result of different (although possibly allelic) genes. This report describes the clinical and roentgenologic manifestations in a family wit acrocephalosyndactyly (ACS) showing considerably variation in phenotype. Two different types of ACS were clinically identified in this single family. The proband presented with the classic stigmata of Pfeiffer syndrome while her cousin was considered to be a typical case of Apert syndrome. Further family study revealed that, in addition to these two individuals, seven other family members also have unusually shaped heads and have the facial appearance remiscent of Crouzon disease. Hand and foot anomalies were seen clinically in some but not all of these individuals. From the observations made in this family and from previous reports in the literature, we feel that there is a substantial reason to reevaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.
Acrocephalosyndactylia↗
Oligodontia: diagnosis and treatment.
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Anodontia↗
Hemangioma-like lesions: diagnosis and management.
The distinctive color that serves as the basis for the appearance of blue lesions arises from the accumulation of pigmented material, blood, or clear fluid in abnormal amounts within the oral tissues. Clinical appearance of these lesions varies and, despite their morphological similarity, their pathogenesis, etiology, and clinical behavior is different, as are their treatment and prognosis. Because of the clinical similarity between benign and malignant blue lesions (as illustrated by the patients described in this report), the need for precise histologic diagnosis prior to definitive treatment is emphasized.
Adult↗