Skip to main content

Table 4 Variables collected for individual patients. Table lists all items for which patient data are sought

From: Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis

General variables Required features and major distal arthrogryposis variables Additional clinical variables
Year of publication Microstomia Seizures
Paper code (in-house tracking) Whistling face Magnetic resonance imaging
Article citation (Vancouver style) H or V-shaped chin dimple Computed tomography scan (Give findings, if stated)
Published diagnostic term Prominent nasolabial folds Electroencephalography
Primary published diagnosis Moderately small mouth Developmental delay
Reviewer diagnosis Small prominent chin Mental retardation
Other diagnosis Neck webbing Normal intelligence
Reason for exclusion Ulnar deviation Reduced anterior-posterior skull distance (radiographically)
Paper type Camptodactyly Steep anterior cranial fossa (radiographically)
Language Hypoplastic or absent flexion creases Bulging appearance of occiput/deep cerebellar fossa (radiographically)
Primary provider (author) speciality Overriding fingers at birth Craniosynostosis
Proband’s country Overriding toes at birth Microcephaly
Patient identification (as published, to avoid potential duplication) Talipes equinovarus Midline facial nevus
Patient code (in-house tracking) Talipes calcaneovalgus Facial asymmetry
Year of birth Vertical talus Long face
Age (years) Metatarsus varus Triangular face
Karyotype results Mask-like face
Inheritance status Flat mid-face
Inheritance pattern Bulging forehead
Parental consanguinity Full forehead
Birth order Superior blepharoptosis
Total number of sibship Ophthalmoplegia
Maternal age at birth Blepharophimosis
Paternal age at birth Downslating palpebral fissures
Gestation (weeks) Short palpebral fissures
Gestation (if stated as term or non-term) Epicanthal folds
Mother’s pregnancy illness Telecanthus
Prenatal polyhydramnios Ocular hypertelorism
Cardiac abnormalities Deep set eyes
Caesarean section Prominent supracilliary ridges
Vaginal delivery Symetrical subcutaneous elevations of medial frontal areas
Delivery complications Impaired visual acuity
Breech or transverse presentation Strabismus
Apgar score (first assessment) Malar hypoplasia
Apgar score (second assessment) Hypoplastic alae nasi
Birth weight (kg) Small nose
Birth weight (if stated as ‘low’ but not given) Broad nasal root
Birth height (cm) Broad/depressed nasal bridge
Birth head circumference Long philtrum
Postnatal growth Microglossia
Failure-to-thrive Micrognathia
Most recent weight (kg) Retrognathia
Most recent weight (if stated as ‘low’ but not given) Straight mandibular rami
Most recent stature (cm) Dental crowding
Most recent stature (if stated as ‘low’ but not given) Malocclusion
Most recent head circumference (cm) High-vaulted palate
Age at most recent measurements (years) Narrow palate
Cleft-lip/palate
Low set ears
Posteriorly rotated pinnae
Attached ear lobules
Hearing impairment
Short neck
Limited cervical range of motion
Low hairlines
Kyphosis
Scoliosis
Lordosis
Spina bifida
Other vertebral anomalies
Costal abnormalities
Nipple hypertelorism
Pectus carinatum
Pectus excvatum
Hip dislocation/dysplasia
Hip contracture
Leg length/width discrepancy
Limited knee motion/disloocation
Patellar anomalies
Equinovagus (talipes valgus)
Contracted toes
Hallux valgus or metatarsus primus Adductus or hallux varus
Limited shoulder motion/dislocation
Limited elbow motion/dislocation
Limited wrist motion
Cortical thumbs
Thickened skin on fingers’ flexor surface
Brachidactyly
Syndactyly
Cutaneous syndactyly
Clinodactyly
Single palmar crease
Dysphasia
Dysphagia
Gastrointestinal symptoms
Hernia
Genitourinary anomalies
Electromyogram
Skeletal muscle weakness
Muscle hypotrophy
Hypotonia
Hypertonia
Upper airway obstruction
Ear infection and chronic fluid
Respiratory illness
Lung disease
Respiratory distress
Apnoea
Early death (state cause)
MYBPC1 allelic variation
TPM2 allelic variation
TNNI2 allelic variation
TNNT3 allelic variation
MYH3 allelic variation
Treatment
Anaesthesia
Ventilation
Malignant hyperthermia-triggers used
Intravenous access
Clubfoot repair
Microstomia repair
Spinal surgery
Splints, casting, braces, or physiotherapy
Craniomaxillofacial surgery
Myringotomies and pressure equalisation tube placement
Other limb surgery
General surgery
Overall treatment outcome