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Split‐hand/foot malformation (SHFM) with long‐bone deficiency (SHFLD) is a rare condition characterized by SHFM associated with long‐bone malformation usually involving the tibia. It includes three different types; SHFLD1 (MIM % 119,100), SHFLD2 (MIM % 610,685) and SHFLD3 (MIM # 612576). The...
Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding of rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome‐wide sequencing performed during the initial hospitalization underwent retrospective review of medical records....
The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well‐known. This gene was initially suggested as a candidate for X‐linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by...
Child growth measurements are critical vital signs to track, with every individual child growth curve potentially revealing a story about a child's health and well‐being. Simply put, every baby born requires basic building blocks to grow and thrive: proper nutrition, love and care, and medical...
Clinical practice guidelines for individuals with Turner syndrome (TS) recommend screening for neuropsychological concerns (NC) and mental health concerns (MHC). However, current provider screening and referral patterns for NC and MHC are not well characterized. Additionally, prevalence of and...
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