ESCOBAR SYNDROME

References

Craniofacial
Difficulty opening mouth widely
Inner epicanthal folds
Long philtrum
Low-set ears
Micrognathia
Ptosis of eyelids with antimongoloid slant of palpebral fissures
Sad flat emotionless face
Gastrointestinal
Diaphragmatic hernia
Genitourinary
Absence of labia majora
Cryptorchidism
Hypospadias of the male genitalia
Growth
Short stature
Hearing
Deafness
Limbs Abnormality
Dislocated radial head
Pterygia plus camptodactyly syndactyly equinovarus or rocker-bottom feet
Mammary
Hypoplastic and/or widely spaced nipples
Muscle
Muscle atrophy
Neurologic Abnormality
Failed fusion of posterior neural arches
Ocular
Ocular hypertelorism
Oral
Cleft palate
Skeletal
Abnormal ossicles
Abnormality of ribs
Absent or dysplastic patella
Anterior clefts of vertebral bodies
Distal radioulnar separation
Fusion of vertebrae or fused laminae
Kyphosis
Modeled scapulae
Rib fusion
Tall vertebral bodies with decreased anteroposterior diameter
Skin
Pterygia of neck axillae antecubital popliteal intercrural areas