August 14 1997

Signs & Symptoms
-Zane was born 10 weeks premature, on 14.8.97. He was "stuck" due to lack of amniotic fluid - oligohydramnious (before membrane rupture)  There was little fetal movement. Antepartum hemorrhage at week 15 and week 16.  Waters broke week 29, induced a week later, but had emergency c-section because of fetal distress.
- Small for dates - Intrauterine Growth Retardation
Build / Stature
- Very small stature,  very thin and quite short
- Facial asymmetry
- Low set ears, one smaller, with auricular malformation
- Hypertelorism
- Bilateral  cleft lip and complete cleft palate
- Overshot jaw
 Late tooth eruption - first two teeth at 12 months, following teeth not until age 2
- Cutis Aplasia Congenita (a spot on his head where the skin didn't form)
- An extra rib, causing slight scoliosis
-Arthrogryposis Multiplex Congenita - contractures of joints and muscle weakness, joints affected in Zane are shoulders - rotated forward, limited ROM, elbows  - extended, limited ROM, wrists - flexed under, limited ROM, thumbs rotated under, one knee - limited ROM and both ankles and feet, these are the same as club feet, but are more resistive to treatment, and recur once treated. Amyoplasia
Upper Limb
-Long tapering fingers
Lower Limb
- One leg longer than other
-Inguinal Hernia
-Congenital Heart Defect - Tetralogy of Fallot, repaired age 5 months, pulmonary valve replacement (homograft) age 9, new valve found non functional a year later... investigations ongoing.
- Development delay- crawled at age 2, walked at same time, but with aid of a walking frame, walked unaided at age 3.
- Speech delay, doesn't talk much, but has his own language - can be unintelligible, started trying to talk at age 2
- Drooling
Laboratory Test and Findings
- Patau's, Edward's, Opitz G and Sticklers Syndromes have all been suspected, but discounted.
- piece of his X chromosome missing

Contact: Catherine mom to Zane at

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