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Table 3 Distribution of associated abnormalities

From: Cutis marmorata telangiectatica congenita: a literature review

 Patients positive for these features, n
(%)
Patients negative for these features, n
(%)
Information not available (N/A), n
(%)
Body asymmetry
Discrepancy in the girth and/or length of extremities, and hypo/hypertrophy of trunk and face.
183 (37.7%)38 (7.8%)264 (54.4%)
Neurological defects
Developmental delay, seizures, epilepsy, brachy plagiocephaly, cerebral atrophy, arteriovenous malformation of the brain, mental retardation, transient ischemic attack, triventricular hydrocephalus, corpus callosum agenesis, white matter calcification, hemiparesis, hemispheric vascular anomaly, hearing impairment, dyscrania, microcephalia, and porencephaly.
49 (10.1%)57 (11.8%)380 (78.4%)
Ophthalmological defects
Glaucoma, blue pigmentation on the sclera, cornea and conjunctiva, retinal vascular abnormalities, retinal detachment, amblyopia, and retinoblastoma.
48 (9.9%)53 (10.9%)385 (79.4%)
Cardiovascular defects
Cardiac malformation, predominantly atrial-septal defect and patent ductus arteriosus, hypertension, and sinus arrhythmia.
25 (5.2%)31 (6.4%)430 (88.7%)
Mongolian spots
Blue spots.
22 (4.5%)2 (0.4%)462 (95.3%)
Dysmorphic features
Syndactyly, micrognathia, widely spread toes, hypertelorism, frontal bossing, flat face, low-set ears, club foot, cleft palate, and epicanthal folds.
16 (3.3%)6 (1.2%)464 (95.7%)
Genitourinary defects
Hypospadias, double ureter, undescended testis, hydrocele, cryptorchidism, urethral obstruction, and clitoral/urethral meatus agenesis.
12 (2.5%)1 (0.2%)473 (97.5%)
Abdominal defects
Hepatosplenomegaly, imperforate anus, neonatal ascites, gastro-oesophageal reflux, and malrotated bowel.
11 (2.3%)22 (4.5%)453 (93.4%)
Nephrological defects
Hydronephrosis, renal hypoplasia, and multi-cystic renal disease.
10 (2.1%)11 (2.3%)465 (95.9%)
Endocrinological defects
Hypothyroidism, hyperlipidaemia, and abnormal copper metabolism.
5 (1.0%)5 (1.0%)476 (98.1%)
  1. Most frequent conditions under each category are listed first