Autosomal recessive 2. autosomal dominant 3. sex-linked recessive 4. sex-linked dominant a. sickle cell anemia b. vitamin D resistant rickets c. hemophilia d. neurofibromatosis e. achondroplasia f. rett syndrome g. cystic fibrosis h. marfan syndrome i [quizlet.com]

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674. [ghr.nlm.nih.gov]

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome? Pediatr Radiol 1998; 28:790–793. [ ] 2. Wardinsky TD, Pagon RA, Powell BR, et al. [rb.org.br]

All affected infants have severe failure to thrive, mental retardation, joint contractures, and cataracts. [mhmedical.com]

[…] sepsis • Weight at death 2.5 kg (Failure to thrive) 6. Second Child • Antenatal history - ? Polyhydramnios • Term born/3.5kgs/Respiratory distress at birth Nicu stay x 20 days. [de.slideshare.net]

[…] and lower respiratory infections j. meconium ileus k. rhizomelica shortening of long bones l. spontaneous pneumothorax Cystic fibrosis Clinical presentations: c, i, j -meconium ileus -malabsorption w/ failure to thrive -chronic/recurrent upper and lower [quizlet.com]

He reported a 6-month-old girl with failure to thrive, shortness of stature, a short right arm, follicular ichthyosis involving the face and arms, and circular alopecia of her scalp. [docslide.com.br]

behavioral patterns k. prominent forehead: long, thin face and prominent jaw l. cerebral infarction in early childhood m. normal length trunk, prominent forehead, flattened midface, trident hands n. splenic autoinfarction & sepsis due to encapsulated [quizlet.com]