Case Report

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

Table 1

Cross-tabulation of BCOR cases and PHACE criteria.

PHACE criteria (columns to the right) case (row below)HemangiomaArterial anomaliesStructural brainCardiovascularOcularVentral midlineOther features, notably dental anomalies (not described in PHACE criteria)

Previously reported “case 4” in Ragge et al. [4](i) Left temporal hemangioma (size not specified)AbsentAbsent(i) Large ASD(i) Bilateral posterior embryotoxonAbsent(i) Large earlobes
(ii) Long fingers with 4th and 5th camptodactyly
(iii) Short and deep-set toenails
(iv) Developmental delay (intellectual disability, speech, and motor delays)

Previously reported “case 8” in Ragge et al. [4](i) Large forehead hemangioma (size not specified)
(ii) Large neck hemangioma
AbsentAbsent(i) Left ventricular noncompaction
(ii) Small persistent ductus arteriosus
(i) Bilateral congenital cataracts
(ii) Mild microphthalmia
Absent(i) Thyroglossal cyst
(ii) Agenesis of both superius lateral incisors
(iii) Cutaneous syndactyly of second and third toes

Currently reported case 1(i) Involuted hemangioma of the foreheadUnknownUnknown(i) VSD(i) Bilateral congenital cataracts
(ii) CHRPE
(iii) Glaucoma
Absent(i) Dental anomalies (persistent baby teeth, fused baby teeth, delayed eruption of secondary teeth, and long roots of her teeth)
(ii) Flat feet
(iii) High-arched palate
(iv) Facial features that do not resemble other family members
(v) Clinodactyly

Currently reported case 2(i) Right parietal scalp estimated as 5 × 6 cm on physical exam but measuring as 3.9 × 2.3 cm axially by MRI
(ii) Smaller lesion within the right frontal scalp measured approximately 1.2 cm in diameter by MRI
(i) Aberrant right subclavian arteryAbsent(i) ASD(i) Bilateral congenital cataracts
(ii) Glaucoma-Microphthalmos left eye
Absent(i) Long roots of her teeth with one missing tooth and first primary tooth loss at 6-7 years of age
(ii) Wolff-Parkinson-White (WPW) syndrome