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Syndromes and Dysmorphisms

Across
Girls with this disorder often have primary amenorrhea and "streak gonads," although some are still able to become pregnant spontaneously
Disorders like Sickle Cell and G6PD Deficiency are thought to convey protection against this infection
Children with Fanconi Syndrome have generalized renal proximal tubular dysfunction, develop rickets and have poor growth secondary to derangements in this electrolyte
Children with sickle cell are at increased risk of infections with these types of organisms due to functional asplenia
Girls with this disorder may be misdiagnosed as having autism due to the loss of speech, poor eye contact, presence of repetitive hand movements, and sensory problems
Children with G6PD deficiency should not consume Fava beans to avoid the development of this condition
Children with Beckwith-Wiedemann Syndrome may develop this, characterized by asymmetric overgrowth of different regions in the body
Syndrome where you would find "stork leg deformity"
Children with this disorder often develop systemic arterial stenosis, hypercalcemia and hypothyroidism
Bleeding disorder with prolonged aPTT, normal platelets, normal PT, and normal VWF
Children with Primary Ciliary Dyskinesia have a 50% chance of developing this abnormality
This disorder, characterized by intellectual disability and epilepsy, is picked up on the newborn screen
Membrane protein affected by Cystic Fibrosis
This disorder is characterized by hypotonia in neonates and hyperphagia in children
Which disorder's findings are summarized by the acronym CATCH-22
Down
Second most common autosomal trisomy - it can affect any organ system and often causes IUGR and hypertonia in infants
Primary cardiac concern in this disorder is the development of aortic root dilatation
Skin lesions in tuberous sclerosis can be best seen with the use of a ____ lamp
Typical birthmarks of Neurofibromatosis Type I
This syndrome is a maternal deletion syndrome of the same chromosome implicated in Prader Willi (a paternal deletion syndrome)
Disorder of facial clefts 6, 7 & 8 leading to zygomatic and malar hypoplasia, colobomas, abnormal external ear development and conductive hearing loss
Children with this most common bone dysplasia may develop spinal stenosis or frequent ear infections
In addition to central hypoventilation, children with PHOX2B mutation may also develop this disorder of the GI tract
This vertebral instability places children with Down Syndrome at increased risk during airway manipulation
Children with this disorder may be born with lymphedema of the hands and feet
Children with this disorder have a high likelihood of developing cancers within their life due to mutation of the TP53 tumour suppressor gene
This disorder affects mostly boys, presents with weakness and progresses from the feet to the torso and upper limbs
Cutaneous lesion most commonly associated with Sturge-Weber
The sclera of children with Osteogenesis Imperfecta are often this color, secondary to defective type I collagen, which allows the choroidal vessels in the eyes to show through
Fragile X is caused by an increased number of ___ trinucleotide repeats in FMR1