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Acrocephalosyndactyly

The Experts below are selected from a list of 216 Experts worldwide ranked by ideXlab platform

David Bixler – 1st expert on this subject based on the ideXlab platform

  • Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.
    Clinical Genetics, 2008
    Co-Authors: Victor Escobar, Ira K. Brandt, David Bixler

    Abstract:

    : 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.

  • on the classification of the Acrocephalosyndactyly syndromes
    Clinical Genetics, 2008
    Co-Authors: Victor Escobar, David Bixler

    Abstract:

    : 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.

  • the Acrocephalosyndactyly syndromes a metacarpophalangeal pattern profile analysis
    Clinical Genetics, 2008
    Co-Authors: Victor Escobar, David Bixler

    Abstract:

    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.

Victor Escobar – 2nd expert on this subject based on the ideXlab platform

  • Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.
    Clinical Genetics, 2008
    Co-Authors: Victor Escobar, Ira K. Brandt, David Bixler

    Abstract:

    : 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.

  • on the classification of the Acrocephalosyndactyly syndromes
    Clinical Genetics, 2008
    Co-Authors: Victor Escobar, David Bixler

    Abstract:

    : 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.

  • the Acrocephalosyndactyly syndromes a metacarpophalangeal pattern profile analysis
    Clinical Genetics, 2008
    Co-Authors: Victor Escobar, David Bixler

    Abstract:

    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.

Jonathan Reynhout – 3rd expert on this subject based on the ideXlab platform

  • Postmenarchal development of chylous ascites in Acrocephalosyndactyly with congenital lymphatic dysplasia.
    Obstetrics and gynecology, 2020
    Co-Authors: Ronald E Batt, Stanley R Michalski, Thomas C Mahl, Jonathan Reynhout

    Abstract:

    Acrocephalosyndactyly is a syndrome characterized by congenital malformation of the skull with craniosynostosis, midface hypoplasia, and symmetrical webbed fusion of the fingers and toes. We describe a possible pathophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with Acrocephalosyndactyly and congenital lymphatic dysplasia.
    A 25-year-old nulligravid woman with Acrocephalosyndactyly, at 18 months after menarche, developed persistent abdominal distension at age 18 years. Laparoscopy at age 25 years revealed chylous ascites with marked chronic peritoneal inflammation, and lymphatic dysplasia with lymphocysts. With hormone manipulation, the chylous ascites fluctuated.
    After menarche in a woman with Acrocephalosyndactyly, ovarian steroid hormones might have increased lymph production and hydrostatic pressure, causing rupture of congenitally dysplastic lymph vessels resulting in chylous ascites.

  • postmenarchal development of chylous ascites in Acrocephalosyndactyly with congenital lymphatic dysplasia
    Obstetrics & Gynecology, 2001
    Co-Authors: Ronald E Batt, Stanley R Michalski, Thomas C Mahl, Jonathan Reynhout

    Abstract:

    Abstract Background: Acrocephalosyndactyly is a syndrome characterized by congenital malformation of the skull with craniosynostosis, midface hypoplasia, and symmetrical webbed fusion of the fingers and toes. We describe a possible pathophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with Acrocephalosyndactyly and congenital lymphatic dysplasia. Case: A 25-year-old nulligravid woman with Acrocephalosyndactyly, at 18 months after menarche, developed persistent abdominal distension at age 18 years. Laparoscopy at age 25 years revealed chylous ascites with marked chronic peritoneal inflammation, and lymphatic dysplasia with lymphocysts. With hormone manipulation, the chylous ascites fluctuated. Conclusion: After menarche in a woman with Acrocephalosyndactyly, ovarian steroid hormones might have increased lymph production and hydrostatic pressure, causing rupture of congenitally dysplastic lymph vessels resulting in chylous ascites.