Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management

Table 1

A summary of the genetic, medical, and dental diagnoses of the three siblings and their dental management.

	Genetic diagnosis	Clinical phenotype	Medical management	Dental diagnoses and management
Fourteen-year-old male (case 1)	Hypophosphataemic rickets secondary to Raine Syndrome homozygous mutation in FAM20C	Sagittal synostosis	Medications	Dental diagnosis
		Raised intracranial pressure	Alfacalcidol 400 ng daily	Multiple periapical abscess with sinus tract
		Convexity; anterior fontanelle	Phosphate 2x daily
		High anterior hairline		Dental management
		Midface hypoplasia	Surgical management	C/C provision (age 14)
		Exorbitism	Posterior vault expansion	Planned XLA: maxillary left canine, mandibular right central incisor
		Nystagmus		C/C provision (age 12)
		Nasal obstruction	Medical management	Full clearance (age 10)
		Narrow nose	BiPAP	XGA mandibular premolars (surgical), mandibular left canine (conventional) (age 9)
		High narrow palate		XLA maxillary right first premolar (age 9)
		Generalised osteosclerosis		XGA maxillary left first premolar, mandibular incisors (age 8)
		Obstructive sleep apnoea		XGA maxillary central incisors and left lateral incisor, left first permanent molars, incision, and drainage of abscess (age 7)
Thirteen-year-old male (case 2)	Hypophosphataemic rickets secondary to Raine Syndrome homozygous mutation in FAM20C	Sagittal and lambdoid craniosynostosis	Medications	Dental diagnoses
		Raised intracranial pressure	Alfacalcidol 400 ng daily	Multiple Periapical Abscess with Sinus Tract
		Bilateral intracranial calcification	Phosphate 2x daily	Bilateral Mandibular Cysts
		Turricephalic head shape	Surgical management	Dental management
		Bossed forehead	Biparietal vault expansion	C/C provision (age 13)
		High anterior hairline	Adenoidectomy	XLA maxillary left central incisor retained root (age 12)
		Convexity; anterior fontanelle; midfacial hypoplasia	Spinal fusion	Enucleation of mandibular cysts (age 9)
		Hypotelorism	Medical management	XGA full dental clearance (age 9)
		Down-slanting palpebral fissures	Bilevel Positive Airway Pressure (BiPAP)	XGA first permanent molars (age 6)
		High narrow palate, midline raphe, and wide uvula		XGA maxillary primary canines and molars, mandibular primary molars (age 3)
		Generalised osteosclerosis
		Barrel-shaped chest
		Spinal hyperlordosis
		Scoliosis
		Leg bowing
		Joint laxity
		Atrophic rhinitis
		Hypertrophy of adenoids
		Choanal stenosis
		Learning difficulties
Eleven-year-old female (case 3)	Hypophosphataemic rickets secondary to Raine Syndrome (homozygous mutation in [FAM20C. C (1094G > T); C (1094G > T). P. (Gly365Val); and (P. (Gly365Val)]	Sagittal craniosynostosis	Medications	Dental diagnoses
		Metopic ridging	Alfacalcidol 400 ng daily	Dental caries
		Bilateral intracranial calcification	Amlodipine 10 mg	Chronic gingivitis
		Convexity; anterior fontanelle	Sodium acid, phosphate 1.936 g	Multiple periapical abscesses with sinus tract
		High anterior hairline	Vitamin D	Perio-endo lesion
		Midfacial hypoplasia		Dens in dente
		Exorbitism	Surgical management	Pulp exposure
		Narrow nose	Adenotonsillectomy
		High narrow palate		Dental management
		Benign hypermobility syndrome	Medical management	First-stage RCT (GA) mandibular left incisors, right central incisor, and maxillary left central incisor, XGA maxillary left second premolar and first permanent molar (age 10)
		Generalised osteosclerosis	Echocardiogram, antihypertensives	XLA maxillary right second primary molar retained roots (age 9)
		Short stature	Dimercaptosuccinic acid (DMSA) scan	First-stage root canal treatment (LA) mandibular right central incisor (age 8)
		Leg bowing	Salbutamol and Beclomethasone inhalers	XGA maxillary primary canines and molars, mandibular primary molars (age 4)
		Asthmatic bronchitis	Intermittent antibiotics	Amoxicillin (multiple courses)
		Atopic rhinitis	Regular orthopaedic reviews
		Hypertrophy of adenoids
		Agranulocytosis
		Hypertension with mild renal impairment
		Learning difficulties

Retained root, LA: local anaesthetic, GA: general anaesthetic, RCT: root canal treatment, C/C: complete denture, XGA: extraction under general anaesthetic, and XLA: extraction under local anaesthetic.