Table 1

Overview of clinical symptoms and features of both subjects

Symptoms dimensionSubject 1Subject 2
Facial and skull dysmorphismRelative macrocephaly
Dolichocephaly
Wide collapsed nasal bridge
Hypertelorism
Retrognathia
Low implanted ears
Short webbed neck
Ocular hypertelorism
Low implanted ears
Left cochlear malformation
NeurologicalVocal cord paresis
Fasciculations of the tongue
Atrophy of tongue and hand muscles
Thoracic meningomyelocele with syrinx
Tethered cord
Peripheral polyneuropathy/spinal atrophy
Bilateral sensineuronal hearing loss
Impairment of respiratory muscles
Bilateral pes cavus
Normal cognitive development
Vocal cord paresis
Left facial palsy
Peripheral axonal polyneuropathy
Progressive bilateral mixed hearing loss
Bilateral pes cavus
Normal cognitive development
SkeletalArthrogryposis multiplex congenita: adducted thumbs, camptodactyly of the second to fourth digits of the right hand, clubfeet
Cystic lesions of long bones and vertebrae
Giant cell lesions of the jaw and skull
Thoracic vertebrae fusion
Left convex thoracic scoliosis
Cubitus valgus
Progressive contractures of large joints
Short stature (<−5 SD)
Bone lesions (femur and foot)
Giant cell lesions of the jaws and skull
Cervical bone fusion
Scoliosis
Limb asymmetry
PulmonaryRecurrent respiratory infections
Asthma Impaired lung function
None
UrologicalVesicoureteral reflux and hydronephrosis (neurogenic bladder)None
OcularChronic blepharitis
Hyperopia
Papilledema
Pigmentary retinopathy
OtherNoneAsymptomatic hyperplasia of the parathyroid glands
Bilateral inguinal hernia