Table 2 Frequent dysmorphic signs and associated congenital anomalies previously described in the 12p deletion syndrome
Head, face and neck | Thorax and abdomen | Genitals | Miscellaneous |
|---|---|---|---|
Stenosis of the sagittal sutura Broad and webbed neck Facial asymmetry/oval shape Arched eyebrows Down slanted palpebral fissures Short Palpebral fissures Almond shape palpebral fissures Epicanthic folds Sclerocornea Eyelid coloboma Large, low set and hyperplastic ears, posteriorly rotated ears Microtia/anotia Large and flat nasal bridge Long philtrum Everted vermillion of the lowe lip Cleft lip and palate Hypoplastic mandible Micrognathia Broad chin Hypoplastic teeth and enamel Hyperplastic gengiva Protunding tongue | Asymmetric thorax Wide-set mamillae Hypoplastic lungs Atrial septal defect Low set umbilicus Multicystic dysplastic Kidneys Vertebral anomalies Extremities Short upper arms Cubitus valgus Short hands Brachymetaphalangy Clinodactyly/camptodactyly Squared firngertips Broad nails Broad thumbs Short metatarsal bones Big overlapping toes with hypoplastic nails Transverse creases | Cryptorchidism Hypoplasia of external genitalia Neurological Microcephaly Brachycephaly Optical nerve atrophy Sensorineural hearing loss Spasticity Presence of Babinsky sign Increased deep tendon reflexes Epilepsy Muscle atrophy | Short stature Low body weight Inguinal hernia Osteogenesis imperfecta Stillborn Turner like stigmata Decreased LDHB activity Sacro-coccygeal dimple |