Signs & Symptoms
-
- Birth
- -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
- Face
- - Facial asymmetry
- Ears
- - Low set ears, one smaller, with auricular
malformation
- Eyes
- - Hypertelorism
-
- Mouth
- - Bilateral cleft lip and complete cleft
palate
- - Overshot jaw
- Teeth
- Late tooth eruption - first two teeth at 12
months, following teeth not until age 2
-
- Skin
- - Cutis Aplasia Congenita (a spot on his head
where the skin didn't form)
- Vertabra
- - An extra rib, causing slight scoliosis
- Limb
- -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
- Genitalia
- -Hypospadias
- -Inguinal Hernia
-
- Cardiac
- -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
- - 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
- Feeding
- - 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
carzands@xtra.co.nz
Any
troubles with e-mails send to
amy76jo@yahoo.com
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