The Experts below are selected from a list of 24 Experts worldwide ranked by ideXlab platform

Robert J Hopkin - One of the best experts on this subject based on the ideXlab platform.

  • variable presentation between a mother and a fetus with goltz syndrome
    Prenatal Diagnosis, 2013
    Co-Authors: Elizabeth A Sellars, Katie Wusik, Nicole K Weaver, Robert J Hopkin
    Abstract:

    Focal dermal hypoplasia, also known as Goltz-Gorlin syndrome,(OMIM 305600) is a congenital disorder affecting tissues derivedfrom mesoderm and ectoderm. Common presenting featuresinclude atrophic Skin, Aplasia cutis, fat nodules in the dermis,and Skin pigment changes. Nails are often dysplastic and hairsparse. More severe anomalies may include anophthalmia/microphthalmia, cleft lip and palate, and limb anomaliesincluding amelia, abdominal wal l defects, renal malformations,and diaphragmatic hernia. Patien ts are often symmetrically smallwith microcephalyandsomehaveintellectualdisability;however,central nervous system involv ement is not a typical feature.

Denise Horn - One of the best experts on this subject based on the ideXlab platform.

  • Adams–Oliver Syndrome
    Limb Malformations, 2014
    Co-Authors: Stefan Mundlos, Denise Horn
    Abstract:

    Adams–Oliver syndrome is characterized by congenital Aplasia of the Skin (Aplasia cutis congenita) and distal limb defects. The Skin defects can occur anywhere on the body but are most frequently found on the posterior head affecting the scalp and, in more severe cases, the underlying parietal bones. As a minimal finding, single to multiple round or oval areas of alopecia may be identified in the parietal area. The limb defects are distal truncations affecting the distal phalanges or entire digits. Further proximal elements such as the metacarpals are rarely involved. Hypoplasia of the nails and distal phalanges is at the milder end of the clinical spectrum. Syndactyly of the 2nd and 3rd toes is also observed. Involvement of the limbs may be asymmetric and is more severe in the feet. The clinical features can also include cutis marmorata, dilated scalp veins, vascular defects, congenital cardiac malformations, and brain malformations. Overall, the phenotype is extremely variable even within families. Severity may vary from II/III toe syndactyly, which is a common finding, to hypoplasia of all toes or even absence of a hand or foot. The severity and frequency of the Skin defects vary but occur in approximately 75 % of patients. This is a potentially life-threatening condition, and large Skin defects that cannot be closed primarily may require Skin grafting, flaps, or both.

  • adams oliver syndrome
    2014
    Co-Authors: Stefan Mundlos, Denise Horn
    Abstract:

    Adams–Oliver syndrome is characterized by congenital Aplasia of the Skin (Aplasia cutis congenita) and distal limb defects. The Skin defects can occur anywhere on the body but are most frequently found on the posterior head affecting the scalp and, in more severe cases, the underlying parietal bones. As a minimal finding, single to multiple round or oval areas of alopecia may be identified in the parietal area. The limb defects are distal truncations affecting the distal phalanges or entire digits. Further proximal elements such as the metacarpals are rarely involved. Hypoplasia of the nails and distal phalanges is at the milder end of the clinical spectrum. Syndactyly of the 2nd and 3rd toes is also observed. Involvement of the limbs may be asymmetric and is more severe in the feet. The clinical features can also include cutis marmorata, dilated scalp veins, vascular defects, congenital cardiac malformations, and brain malformations. Overall, the phenotype is extremely variable even within families. Severity may vary from II/III toe syndactyly, which is a common finding, to hypoplasia of all toes or even absence of a hand or foot. The severity and frequency of the Skin defects vary but occur in approximately 75 % of patients. This is a potentially life-threatening condition, and large Skin defects that cannot be closed primarily may require Skin grafting, flaps, or both.

Stefan Mundlos - One of the best experts on this subject based on the ideXlab platform.

  • Adams–Oliver Syndrome
    Limb Malformations, 2014
    Co-Authors: Stefan Mundlos, Denise Horn
    Abstract:

    Adams–Oliver syndrome is characterized by congenital Aplasia of the Skin (Aplasia cutis congenita) and distal limb defects. The Skin defects can occur anywhere on the body but are most frequently found on the posterior head affecting the scalp and, in more severe cases, the underlying parietal bones. As a minimal finding, single to multiple round or oval areas of alopecia may be identified in the parietal area. The limb defects are distal truncations affecting the distal phalanges or entire digits. Further proximal elements such as the metacarpals are rarely involved. Hypoplasia of the nails and distal phalanges is at the milder end of the clinical spectrum. Syndactyly of the 2nd and 3rd toes is also observed. Involvement of the limbs may be asymmetric and is more severe in the feet. The clinical features can also include cutis marmorata, dilated scalp veins, vascular defects, congenital cardiac malformations, and brain malformations. Overall, the phenotype is extremely variable even within families. Severity may vary from II/III toe syndactyly, which is a common finding, to hypoplasia of all toes or even absence of a hand or foot. The severity and frequency of the Skin defects vary but occur in approximately 75 % of patients. This is a potentially life-threatening condition, and large Skin defects that cannot be closed primarily may require Skin grafting, flaps, or both.

  • adams oliver syndrome
    2014
    Co-Authors: Stefan Mundlos, Denise Horn
    Abstract:

    Adams–Oliver syndrome is characterized by congenital Aplasia of the Skin (Aplasia cutis congenita) and distal limb defects. The Skin defects can occur anywhere on the body but are most frequently found on the posterior head affecting the scalp and, in more severe cases, the underlying parietal bones. As a minimal finding, single to multiple round or oval areas of alopecia may be identified in the parietal area. The limb defects are distal truncations affecting the distal phalanges or entire digits. Further proximal elements such as the metacarpals are rarely involved. Hypoplasia of the nails and distal phalanges is at the milder end of the clinical spectrum. Syndactyly of the 2nd and 3rd toes is also observed. Involvement of the limbs may be asymmetric and is more severe in the feet. The clinical features can also include cutis marmorata, dilated scalp veins, vascular defects, congenital cardiac malformations, and brain malformations. Overall, the phenotype is extremely variable even within families. Severity may vary from II/III toe syndactyly, which is a common finding, to hypoplasia of all toes or even absence of a hand or foot. The severity and frequency of the Skin defects vary but occur in approximately 75 % of patients. This is a potentially life-threatening condition, and large Skin defects that cannot be closed primarily may require Skin grafting, flaps, or both.

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

  • Skin Aplasia of the vertex. Report of a familial form
    Revue De Stomatologie Et De Chirurgie Maxillo-faciale, 1992
    Co-Authors: Aknin J, Seguin P, Brunon J, Ouchchane M
    Abstract:

    The authors report about a familial case of Skin Aplasia of the vertex cranii, of which they present a form that required emergent surgical repair with a favorable outcome. The investigation allowed tracing two relatives with minor forms expressed as alopecia of the vertex. Skin Aplasia of the vertex cranii is an exceptional condition, which consists in the congenital absence of cutaneous, bony and/or dural tissue in the cranium. The various etiopathogenetic, clinical, diagnostic, evolutive and therapeutic aspects are reviewed.

Barbara Królak-olejnik - One of the best experts on this subject based on the ideXlab platform.

  • Congenital Skin Aplasia on the lower limb in a premature infant with ELBW - case report
    Italian Journal of Pediatrics, 2014
    Co-Authors: Agata Pająk, Anna Szczygieł, Dorota Paluszyńska, Barbara Królak-olejnik
    Abstract:

    Aplasia cutis congenita (ACC) is usually located on the hairy scalp, on the vertex of the head, but can also occur in other locations, such as limbs, trunk. Congenital Skin Aplasia on the lower limb is very rare disorder. The exact etiopathogenesis is not known, but intrauterine conditions play a role in its development. ACC visually resembles an ulceration, with a smooth pink surface, which in most cases heals spontaneously. Depending on the wound size and whether signs of inflammation are present, the lesion may require local treatment. In the described case, surgical treatment was carried out because of the extreme prematurity of the infant. The outcome was satisfactory, causing no adverse impact on the child's development during the infancy.