Case history and examination:
Patient 1 : A 4-month-old female with intrauterine growth restriction, arthrogryposis multiplex congenita, and sensorineural hearing loss was referred to pediatric gastroenterology clinic for poor growth and feeding problems. She was born at 40 weeks of gestation to a healthy, non-consanguineous, biracial Hispanic-Asian couple. Mother had alpha thalassemia trait and hemoglobin E trait, and paternal half-brother had lipoprotein deficiency. Patient’s birth weight was 2.72 kg. She had postnatal growth failure with weight of 4.23kg (0.03 %tile, Z score -3.40) and length of 52.8cm (<0.01 %tile, Z score -4.07) at 4 months of age. On examination, she had mild jaundice, microcephaly, ocular hypotelorism, micrognathia, highly arched palate, bilateral hearing loss, bilateral transverse palmar creases, dry skin without ichthyosis, enlarged liver, mild hypotonia, and bilateral rocker bottom feet (Figure 1: a,b,c).
Patient 2: Patient was born at 39 weeks of gestation to the same biological parents as sibling 1. Her birth weight was 2.72kg. Subsequently, she was also found to have growth failure, with a weight of 2.70 kg (<0.01%tile, Z score -3.90) and a length of 46.7cm (<0.01 %tile, Z score -4.31) at 1.5 months of age. On examination, she had microcephaly, bilateral hearing loss, bilateral transverse palmar creases, dry skin without ichthyosis, mild hypotonia, and bilateral rocker bottom feet (Figure 1: d,e).