Tick Tock

Phase one complete. Baby goes to the specialist on Thursday. I try not to worry or spin things up in my head. But below, is what my research yields: I left the links there so you can go see them if you like. OI pretty much hits the nail on the head. Her sclera's are DEFINITELY not white. I put her up next to another baby and they are clearly blue-ish gray. Her bones are constantly popping. I seriously didn't think anything of it until I started researching. I am just driving myself crazy. I need to just chill and not think about it until after the doctors do their tests.

1. osteogenesis imperfecta  ...of these conditions can include blue sclerae, short stature, hearing loss, respiratory...
2. Related genes:

   • COL1A1
   • COL1A2
   • CRTAP
   • LEPRE1
3. ZNF469 gene information 
   Official name: zinc finger protein 469
4. Blue sclera is characterized by localized or generalized blue coloration of sclera because of thinness and loss of water content, which allow underlying dark choroid to be seen.
   1. Associated with high urine excretion
   

   A. Folling syndrome (phenylketonuria) NOT LIKELY
   B. Hypophosphatasia (phosphoethanolaminuria) NOPE
   C. Lowe syndrome (oculocerebrorenal syndrome; chondroitin-4-sulfate-uria) NOPE

   2. Associated with skeletal disorders
   

   A. Brachmann-de Lange syndrome
   B. Brittle cornea syndrome (blue sclera syndrome)-recessive POSSIBLY
   C. Crouzon disease (craniofacial dysostosis)
   D. Hallermann-Streiff syndrome (dyscephalia mandibulooculofacial syndrome)
   *E. Marfan syndrome (dystrophia mesodermalis congenita) NOT LIKELY
   F. Marshall-Smith syndrome
   G. McCune-Albright syndrome (fibrosus dysplasia)
   H. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
   I. Osteogenesis imperfecta (van der Hoeve syndrome)  FITS BEST SO FARJ. Paget syndrome (osteitis deformans)
   K. Pierre Robin syndrome (micrognathia-glossoptosis syndrome)
   L. Robert syndrome
   M. Silver-Russell syndrome
   N. Werner syndrome (progeria of adults)

   3. Chromosome disorders -THE AMNIO SAID HER CHROMOSOMES ARE FINE.
   

   A. Trisomy syndrome
   B. Turner syndrome

   4. Ocular
   

   *A. Congenital glaucoma
   B. Myopia
   *C. Repeated surgeries
   D. Scleromalacia (perforans)
   *E. Staphyloma
   F. Trauma

   5. Miscellaneous
   

   A. Ehlers-Danlos syndrome (fibrodysplasia elastica generalisata)
   B. Goltz syndrome (focal dermal hypoplasia syndrome) -WOULDN'T THIS JUST BE KARMA?
   C. Incontinentia pigmenti (Bloch-Sulzberger syndrome)
   D. Lax ligament syndrome
   E. Minocycline-induced
   F. Oculodermal melanocytosis (nevus of Ota)
   G. Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome)