(a) Brachytelephalangy with missing and hypoplastic nails of fingers. (b) Hand radiograph showing hypoplastic distal phalanges. (c) Broad hallux and hypoplastic toenails. [iofbonehealth.org]

Brachytelephalangy was present with hypoplastic nails, especial- ly on thumbs and little fingers. She developed a mild scoliosis. Alkaline phosphatase activity was increased to between 1,937 and 2,069U/L (NR 410U/L). A karyotype was normal. [dev.docslide.net]

Figure 3 Hand anomalies of patients with PIGV mutations. ( a ) Brachytelephalangy with missing and hypoplastic nails of fingers of patient 8. ( b ) Hand radiograph of patient 2 showing hypoplastic distal phalanges. ( c ) Broad hallux and hypoplastic toenails [nature.com]

Midface hypoplasia, prognathism, hypertelorism, long palpebral fissures, arched eyebrows, broad nasal bridge and tip, cleft palate (rare), short philtrum, downturned corners of the mouth, tented mouth, ventral septal defect (rare), feeding problems necessitating [iofbonehealth.org]

She had long palpebral fissures, a prominent nasal bridge, simple cupped ears with thickened helices, and a tented upper lip with downturned corners of the mouth (Fig. 1A). [dev.docslide.net]

She was hypotonic at birth and had a round face, downturned mouth, and thickened helices. The patient developed tonic-clonic seizures at age 8weeks. Renal ultrasound study showed unilateral hydronephrosis. [dev.docslide.net]

development (in most patients). [iofbonehealth.org]

In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]

Speech development, especially expressive language, was more affected than motor skills in the majority of patients (Table 1). Seizures are present in the majority of this cohort. [mafiadoc.com]

Hyperphosphatasia is a heterogeneous group of disorders characterized by a generalized skeletal disease and increased alkaline phosphatase. [jhu.pure.elsevier.com]

IMMUNOHISTOCHEMISTRY FOR CYTOPLASMIC INCLUSION BODIES In Patients 1 and 2, no abnormal vacuoles were observed on rectal biopsy (data not shown). A 4mmskin punchbiopsywas performed in Patient 3. [dev.docslide.net]