History was remarkable for suspected milk and soy protein allergy, gastroesophageal reflux, constipation, and abdominal distension that was present since birth. He was losing weight despite oral intake of over 100 kcal/kg per day. [readbyqxmd.com]

Soon after birth, he presented with abdominal distension and vomiting. A rectal biopsy showed short-segment Hirschsprung disease which required colostomy and anal dilatations. Bilateral supernumerary nipples were noted. [dev.docslide.net]

[…] disease is characterized by three stages: stage 1 is a sub-acute encephalopathy often triggered by febrile illness; stage 2 is an acute encephalopathy with seizures, loss of motor function, developmental regression, dystonia, external ophthalmoplegia, dysphagia [readbyqxmd.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]

(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]

In addition to cup-shaped ears with thickened helices and a bifid uvula, one sibling had an anteriorly situated anus and the other had Hirschsprung disease not seen in all presentations of the syndrome [Marcelis et al., 2007; Krawitz et al., 2010; Thompson [dev.docslide.net]

Fig. 2) (d, e, f) The distinct pattern of facial anomalies present in a patient with PIGV mutation consisted of wide-set eyes, often with a large appearance, a short nose with a broad nasal bridge and tip, and a tented upper lip. [iofbonehealth.org]

nasal bridge and a rectangular face. [en.wikipedia.org]

The distinct pattern of facial anomalies present in all patients consisted of wide-set eyes, often with a large appearance, a short nose with a broad nasal bridge and tip, and a tented upper lip ( Figures 2 and 4 ). [nature.com]

Facial dysmorphic features including hypertelorismwith elongated palpebral fissures, broad nasal bridge, and tented upper lip with downturnedcorners of themouthare common toall cases (Table I). [dev.docslide.net]

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]

corners of the mouth, and a thin upper lip. [ncbi.nlm.nih.gov]

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]

Hyperventilation and hand-flapping occurred when she became excited. Weight, length, and skull circumference were normal. Her face showed a course appearance and she suffered from acne (Fig. 1C). [dev.docslide.net]

In addition, affected infants and children may have hypotonia, abnormally loose joints, delayed bone age (2 to 3 years behind the chronological age), and mild to severe intellectual disability. [rarediseases.org]

Disease description An autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. [uniprot.org]

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]