Table 6 Suggested framework for further reports
From: Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review
Antenatal |
Short and bowed long bones Oligoamnios Intra-uterine growth restriction |
Dysmorpology (facial) |
Jaw aspect: micrognathia, retrognathia, square jaw Global face shape: midface hypoplasia, square face Lips and mouth aspect: pursed mouth, thin lips Ears position: low-set ears Nose aspect: short, wide, anteverted nostrils Eyes: ptosis of eyelid |
Osteo-articular involvement |
Long bones: short and bowed (mandatory criterion for diagnosis) Hands and feet: feet malposition, camptodactyly Articulations: joint mobility restriction, joint deformation Bone mineralization: osteoporosis, fractures Spinal deformation (type and severity) Growth retardation (weight, height) |
Dysautonomic involvement |
Temperature control: hyperthermia, temperature instability, abnormal sweating Cardio-respiratory: pulmonary hypertension, respiratory distress Ophtalmologic: hypolacrimation, corneal reflex, corneal injuries Ears/nose/throat: smooth tongue, tongue injuries, dentition anomalies Neurological: swallowing trouble, abnormal perception of pain, myotonia or trismus, hypotonia, hyporeflexia, motor and cognitive development, seizure |
For each reported idem Explicitly report as present or absent Age of occurrence Age of resolution if applicable (Proposed management) |