Table 1.

Overview of clinical symptoms and features of both subjects

Symptoms dimension	Subject 1	Subject 2
Facial and skull dysmorphism	Relative macrocephaly Dolichocephaly Wide collapsed nasal bridge Hypertelorism Retrognathia Low implanted ears Short webbed neck	Ocular hypertelorism Low implanted ears Left cochlear malformation
Neurological	Vocal 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
Skeletal	Arthrogryposis 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
Pulmonary	Recurrent respiratory infections Asthma Impaired lung function	None
Urological	Vesicoureteral reflux and hydronephrosis (neurogenic bladder)	None
Ocular	Chronic blepharitis Hyperopia Papilledema	Pigmentary retinopathy
Other	None	Asymptomatic hyperplasia of the parathyroid glands Bilateral inguinal hernia