Table 1 Summary of clinical features and variants of patients with ARCND1 in present case and reported in literatures
Reference of Genetic analysis (case#) | Present report | Rieder et al. [2] (#S008) | Rieder et al. [2] (#S011) | Tavares et al. [6] (#Sp1) | Gordon et al. [3] (#Case7) | Tavares et al. [6] (#Sp2) | Tavares et al. [6] (#ACS1) |
Reference of case report (case#) | Present report, de novo | Rieder et al. [2] (#S008), Familial case, Inherited from her father with mild hypoplasia | Erlich et al. [4] (#patient1), Familial case, Inherited from her mother with similar phenotype | Propst et al. [5], de novo | Gordon et al. [3] (#Case7), Familial case, Inherited from her father who have normal ears and mild hypoplastic of mandibula | Tavares et al. [6] (#Sp2), de novo | Guion-Almeida et al. [1] (#III-18), Familial case |
Reference of 3D-CT images (case#) | Present report | Rieder et al. [2] (#S008) | Erlich et al. [4] (#patient1) | Propst et al. [5] | − | − | Passos-Bueno et al. [14] (#ACS) |
Nucleotide (NM_006496.4) | c.807C>A | c.118G>C | c.118G>C | c.134G>T | c.141C>A | c.143C>A | c.805A>T |
Amino acid (NP_006487.1) | p.N269K | p.Gly40Arg | p.Gly40Arg | p.Gly45Val | p.Ser47Arg | p.Thr48Asn | p.Asn269Tyr |
Location (G box) | G4 | G1 | G1 | G1 | G1 | G1 | G4 |
Gender | Female | female | Female | Male | Female | Male | Female |
Micrognathia | Severe | Severe | Severe | Severe | Asymmetric | Asymmetric | Severe |
Round facial appearance | + | + | + | + | + | + | + |
Prominent cheeks | + | + | + | + | + | + | + |
Low-set ears | + | + | + | + | + | + | + |
Malformed ears/question-mark ears | + | + | + | + | + | + | + |
Auricular clefts | + | − | + | + | − | − | + |
Overfolding of the superior helices | + | + | + | + | − | + | + |
External auditory canals | Stenotic | NA | Narrowing | Stenotic | NA | NA | Atretic |
Hearing loss | Moderate | NA | Mild to moderate | Conductive | − | + | + |
Malformation of middle and inner ear | + | NA | − | + | NA | NA | NA |
Microstomia | + | + | + | + | + | + | + |
Glossoptosis | + | + | + | + | NA | + | + |
Abnormality of tongue | Lobulated with lateral soft-tissue projections | lateral soft-tissue projections | Hypoplastic | + | NA | + | – |
Cleft palate | – | NA | + | − | – | + | NE |
Dysmorphic features of mandibular condyle and coronoid | + | + | Temporomandibular joints are not seen | Maldevelopment of coronoid processes | NA | NA | Condyle agenesis |
Hypoplastic mandibular rami | Severe | Severe | Severe (agenesis) | Severe | NA | NA | Severe |
Mandibular angle | Unrecognisable | Unrecognisable | Unrecognisable | Unrecognisable | NA | NA | Unrecognisable |
Ankylosis of mandibular jaw | + | + | + | + | NA | NA | Severely limited |
Fusion to medial and lateral pterygoid plates | + | + | + | NA | NA | NA | NA |
Respiratory difficulties | + | + | + | + | NA | + | + |
Feeding difficulties | + | NA | NA | + | NA | + | + |
Speech articulation difficulties | + | NA | NA | NA | NA | NA | NA |
Apnea | + | NA | + | + | NA | + | NA |
Tracheotomy | + | + | + | + | NA | NA | + |
Gastrostomy tubes | + | NA | + | NA | NA | NA | + |
