Patients of Escobar Syndrome

  • Patient Serial No - 1

    • Age:

    1

    Sex:

    female

    Location:

    dhaka

    Mutation Type:

    Chromosomal aberration

    Mutation:

    Not specified

    Clinical Features:

    Dysmorphic face, structural aberrations of limb and trunk, micrognathia, long philtrum, mile ptosis in eyes, hypertelorism, hirsutism in limbs, bilateral flexion deformity in elbow, wrist, knee and ankle joint, webbed neck, webbing across flexion creases, camptodactyly of fingers and toes, scoliosis, contracted pelvis, feet with rocker bottom appearance, rudimentary right labia majora, normal labia minora and introitus, no respiratory, central nervous system or gastrointestinal abnormalities present, limited mouth opening, microstomia, mandibular retrognathism, high arched palate, average birth weight of 2.6 kg.

    treatement and management:

    Counseling, follow-up at treatment facilities.

    Remarks:

    First issue of non-consanguineous marriage, born after full term pregnancy, no family history of genetic abnormalities, admitted to NICU, CMH, Dhaka due to “facial dysmorphism and multiple limb deformities”. The baby was clinically stable but had difficulties feeding due to difficulties in opening mouth.

    Data Reference