The Experts below are selected from a list of 279 Experts worldwide ranked by ideXlab platform

U Gembruch - One of the best experts on this subject based on the ideXlab platform.

  • prenatal detection of fraser syndrome without Cryptophthalmos case report and review of the literature
    Ultrasound in Obstetrics & Gynecology, 2001
    Co-Authors: C Berg, A Geipel, U Germer, A Pertersenhansen, M Kochdorfler, U Gembruch
    Abstract:

    Fraser syndrome (Cryptophthalmos–syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are Cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology

  • p51prenatal detection of fraser syndrome without Cryptophthalmos
    Ultrasound in Obstetrics & Gynecology, 2000
    Co-Authors: C Berg, A Geipel, U Germer, U Gembruch
    Abstract:

    Background Fraser syndrome (Cryptophthalmos–syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are Cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, nonvisualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. Case report Fraser syndrome was diagnosed at 16.0 weeks gestational age in a women whose previous pregnancy was terminated because of multiple malformations. Abnormal sonographic findings included agenesis of kidneys and bladder, dilated trachea and main bronchi suggestive for high airway obstruction, hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Strikingly, face and cerebral structures appeared normal. However these findings together with the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. No defects of the face could be demonstrated. Conclusion Prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain at doubt in most cases in which no previous child is affected.

Jurgen W Spranger - One of the best experts on this subject based on the ideXlab platform.

  • Cryptophthalmos syndactyly syndrome without Cryptophthalmos
    Clinical Genetics, 2008
    Co-Authors: R Koenig, Jurgen W Spranger
    Abstract:

    Based on a personal observation and a review of the literature five cases with the so-called Cryptophthalmos-syndactyly syndrome but without Cryptophthalmos are presented. It appears that eye lesions are non-obligatory components of a pleomorphic condition which may be overlooked in the absence of the name-giving anomaly. The diagnosis of the Cryptophthalmos-syndactyly syndrome must be considered in patients with a combination of acrofacial and urogenital malformations with or without Cryptophthalmos.

Marshall M Parks - One of the best experts on this subject based on the ideXlab platform.

  • dominant syndrome with isolated Cryptophthalmos and ocular anomalies
    American Journal of Medical Genetics, 1992
    Co-Authors: M Howard M D Saal, Elias I Traboulsi, Paul Gavaris, Carole A Samangosprouse, Marshall M Parks
    Abstract:

    We report on a mother and daughter with nonsyndromal Cryptophthalmos. Both patients have additional ocular anomalies, including microphthalmia, retinal dysplasia, and Peters anomaly. The periocular and lid changes seen in these individuals are distinct from those seen in typical Cryptophthalmos. The apparent dominant mode of inheritance in this family distinguishes this condition from autosomal recessive isolated Cryptophthalmos and from the Fraser or Cryptophthalmos syndrome. © 1992 Wiley-Liss, Inc.

Dongmei Li - One of the best experts on this subject based on the ideXlab platform.

I S Jones - One of the best experts on this subject based on the ideXlab platform.

  • rehabilitation of a child with partial unilateral Cryptophthalmos and multiple congenital anomalies
    American Journal of Ophthalmology, 1996
    Co-Authors: H Konrad, J C Merriam, I S Jones
    Abstract:

    Abstract PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral Cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of Cryptophthalmos is described. METHODS: The medical literature since the original description of Cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the incidence of associated anomalies. RESULTS: Including this patient, 149 case reports of Cryptophthalmos were identified. In two families transmission from parent to child suggests dominant inheritance. None of the five dominant cases had any other anomalies, and all had bilateral complete Cryptophthalmos. The incidence of Cryptophthalmos in the remaining families is consistent with autosomal recessive inheritance. This group includes patients with bilateral, unilateral, and partial Cryptophthalmos. Other anomalies are common, including those of the ear and nose, limbs, genitourinary system, and mouth and palate. Mortality in the perinatal period is associated with renal agenesis, laryngeal atresia, and pulmonary hypoplasia. CONCLUSIONS: Cryptophthalmos is a rare congenital anomaly with two patterns of inheritance.