What is Shwachman
The syndrome is a rare genetic condition named
after the clinician who first described in 1964. The primary features of the
syndrome can include neutropenia. This can lead to reduced ability to fight
general illness and mouth ulcers, gum disease, tooth decay, ear infections
etc. Other primary features can include inability to produce enough enzymes
to digest food sufficiently, bone abnormalities and growth retardation. Some
children also have developmental delay although many catch up by school age.
A minority have severe learning difficulties. Most have normal IQs. Because
of its relative "newness" and rarity clinicians are more likely not to recognise
children with the syndrome during their careers. There is a risk that children
may be inappropriately treated and cared for. Consequently the primary purpose
of this site is to help facilitate and co-ordinate information exchange between
support groups, clinical professionals and families in similar circumstances.
It is also hoped that it will help clinicians identify the signs and symptoms,
diagnose promptly and develop appropriate multi-disciplinary treatment regimes.
Also known as: Lipomatosis of Pancrease, Congenital;
Shwachman-Bodian Syndrome; Pancreatic Insufficiency and Bone Marrow Dysfunction;
Shwachman Diamond Syndrome. Other spellings .... Schwachmann .... Schwachman
... Shwachmann.... (any other?)
First described in 1964, Shwachman-Diamond
Syndrome is a rare disease which mainly involves the pancreas, bone marrow
and skeleton, but other organs may also be affected. Next to Cystic Fibrosis,
it is the most common cause of pancreatic insufficiency in children. Because
of this reason, it is sometimes confused with Cystic Fibrosis; but in children
with Shwachman-Diamond Syndrome the sweat test is normal. People with Shwachman-Diamond
Syndrome usually have a decreased ability to digest food because the cells
of the pancreas, in which digestive enzymes are produced, do not work properly.
Additionally, there is usually a decreased number of at least one kind of
blood cells. In some patients, there is a decrease in all kinds of blood cells.
Most frequently, this decrease occurs in the number of neutrophils, the blood
cell that is necessary to fight bacteria infections.
Shwachman-Diamond syndrome is genetic, most
likely an autosomal recessive condition. The genetic defect is unknown at
present. The inheritance is supported by the presence of more than one effect
patient in a family. Males and females are effected with equal frequency.
However, the factors which lead to multisystem diseases are unknown.
Infants often become ill with symptoms by
the age of four or six months old. Early problems include failure to thrive,
feeding problems and recurrent infections. Growth soon slows and remains below
normal; only a few children show growth beyond the third percentile. Infections
are present early in at least 85% of children. These occasionally lead to
death. Diagnosis is generally made in the first few years of life, although
occasionally diagnosis is delayed.
Diarrhea is almost always present in infancy.
Stools contain an excessive amount of fat and are foul smelling and greasy
in appearance. Improvement in stools are seen after enzymes replacement therapy
is begun. Although weight gain is noted, growth does not seem to improve.
Some older patients are able to discontinue enzyme replacement with no clinical
As a result of dysfunction of the bone marrow,
patients may have a decrease in any or all types of blood cells. There may
be decreased numbers of neutrophils (the white blood cell that helps fight
infection), platelets( the blood cell that helps clot the blood), or red blood
cells. Blood cell counts should be monitored regularly. Shwachman-Diamond
Syndrome patients have apropensity to myelodysplasia or leukemic transformation,
for this reason bone marrow aspirates and biopsies are recommended.
Neutropenia is present when the counts are
lower than 1500 per microliter. Neutrophils are a type of white blood cell
important in fighting bacteria infections. Neutropenia is seen, at sometime
during the course of the disease, in virtually all patients. Many patients
are prone to repeated bacterial infection. Some of these infections may be
life threatening. Close attention should be paid to infection, with appropriate
treatment instituted as quickly as possible.
The blood also contains cells called platelets.
It is their function to clot the blood when bleeding occurs. Normally, platelet
counts are above 150,000 per microliter. In about 35% of patients with Shwachman-Diamond
syndrome this count is below that number; this is called thrombocytopenia.
Easy bruisability is one indication of thrombocytopenia, but severe bleeding
is unusual. Precautions may be required before dental work or surgery, and
platelet transfusions or medications may be necessary to diminish the risk
of abnormal bleeding.
Anemia occurs when the hemoglobin level is
under 10gm/dl, and has been observed in up to 40% of patients with Shwachman-Diamond
Syndrome. Anemia is usually mild and does not respond well to treatment with
iron, folic acid and vitamin B-12.
Bone lesions have been reported in 10 to 15%
of patients. The bone abnormalities are called metaphyseal chondrodysplasia.
X-ray changes are most commonly seen in the hip, femur, tibia (leg bone) and
ribs. These changes can be severe enough to require surgical correction.
Abnormalities in the structure of the liver
and in function are not uncommon. Hepatomegaly (enlarged liver) occurs in
about 2/3 of patients under the age of five years of age, but is less frequent
in older children. Serum liver enzymes are elevated in 50 to 75% of cases,
again most often in young children and tending to fall with age. Chronic liver
disease has been reported.
Less frequently reported conditions include
cardiac lesions, developmental and intellectual delays, behavior and eating
problems, lung disease, renal tubular malfunction, abnormal pulmonary function
tests, testicular fibrosis, dental problems, diabetes mellitus and pubertal
Mortalities have been reported. Full growth
may not be obtained despite aggressive therapy, particularly if hip disease
is severe. The other features of the disease may persist into adulthood.
If the pancreas is not working properly, enzyme
replacement should be begun immediately. Guidelines for enzyme use are similar
to those for Cystic Fibrosis. Enzyme replacement should decrease diarrhea
and foul, greasy stools. This may not, however, improve growth. Multivitamins
and supplemental fat-soluble vitamins (vitamins A,D,E,and K) should be given
daily. The diet should provide protein and energy adequate for nutritional
needs and may require supplementation with high calorie foods or prepared
supplements. Infections should be treated vigorously with appropriate antibiotics.
Bleeding problems and anemia may require blood and platelet transfusions or
other intervention (such as DDAVP). Hip disease should be monitored closely
and may require surgical intervention. Developmental delays may be helped
by physical and speech therapy.
This article is general information for educational
Please consult a qualified physician for diagnosis
Shwachman- diagnostic Checklist Guide
Inherited disorder - probable that affected
person has inherited one defective gene from each parent (autosomal recessive
genetic trait). Difficult to be very precise but the probabilities are circa
Probability of meeting partner with same
genetic defect - odds are incalculable (has anyone worked it out?). For example
at this point in time there are about 40 families in the UK who are known
to have a child with the syndrome- out of a total population of 56 million.
Even if the level of under-reporting was very significant the odds of meeting
a partner with the same defective gene can be seen to be very very slim ........
Probability of having a child with the syndrome
if both partners have defective genes is one in four or 25%
Probablity of passing on one of the two defective
genes to child but not both defective genes is one in two or 50% (but the
child should not exhibit any signs of having the syndrome - they would be
the same as their parents). If this did occur the child would have to meet
a partner with the other defective gene to run a one in four chance of having
a child with the syndrome
Probability of a child with the syndrome passing
it on to their children if they have a partner with no defective genes ..........
can anyone point to any research that identifies what this is?????
Probability of not inheriting any of the two
defective genes from either parent is one in four or 25% - in other words
there is then no risk that the child will, in turn, have children with the
Probability of each child not having the syndrome
is three in four or 75%
Note that the odds are the same for each child
the partners have. The odds do not get better or worse with each child the
couple have. Each time the risk is one in four that the couple will have a
child with the syndrome - or to put it another way there is a three in four
chance that they won't.
As far as we know there is no test that can
be carried out during pregnancy that can determine whether the unborn child
has the syndrome. Because there is no pre-natal test there is no way a couple
can make an informed decision with their first child in the same way that
can be done for say Downs Syndrome and go for an abortion. Even if there was,
the cost of such a test would make it unlikely that any commercial organisation
would deem it cost effective to develop and market. For a couple with a Shwachman
child the chances of the next child getting Shwachman's is one in four. .
Given that this is a genetic condition there
is no cure to mend the defective genes that cause the problems. But there
are treatments available that deal with many the signs and symptoms and help
to manage the condition effectively. Who knows.......... one day gene therapy
may work (where "genetic fixes" are "injected" into a patient which repairs
the abnormal genes permanently) and if so a cure would then be available for
anyone with the syndrome. IDENTIFYING THE GENES THAT CAUSE SHWACHMAN SYNDROME
IS THE VERY FIRST STEP ALONG THAT ROAD. This could be many many years away...........
if anyone disagrees please tell me.
Multiple and varied manifestations - many
variations, can be a wide degree of variation among those with the syndrome
Signs & Symptoms
Thanks go to Peter Drurie, MD, FRCPC, from
The Hospital for Sick Children, Toronto, Canada -- figures/% shown below were
taken from a 1996 study of 25 patients diagnosed as having Shwachman Syndrome
conducted by Dr P Durie.
Malabsorption (in most cases)
Malabsorption of fats and other nutrients
- cause - abnormal development of pancreas (pancreatic insufficiency).
Exocrine pancreatic dysfunction occured in
25 out of 25 cases.
Pancreatic insufficiency occured in 22 out
of 25 patients. If occurs patients require enzyme supplements
can cause problems with growth and nutrition.
Mean birth weight for boys and girls fell
within the lower limits of the normal range for the 25 cases studied.
In the first 6 months of life many children
showed poor growth but after infancy the rate of growth returned to normal.
However average growth percentiles was below
the 5th for both height and weight.
There was considerable growth variation from
patient to patient.
Approx 50% of children show evidence of improvement
of pancreatic function with age. If so enzyme supplements may be first reduced
Abnormal bone development (abnormal ossification)
19 out of 25 patients had some form of skeletal
11 out of 25 had metaphyseal dysostosis.
To rib cage (may exhibit thickening of ribs
and their supportive connecting tissue - costochondral thickening - resulting
in abnormally short, flared ribs), legs/arms (metaphyseal dysostosis).
32% of patients had skeletel abnormalities
to the rib cage.
44% of patients had skeletel abnormalities
to the long bones.
in most cases skeletel abnormalities have
no consequences to the patient.
8 out of 25 had thoracic cage problems.
Growth delay, children - small for age.
Short stature (primary manifestation).
Below average height and weight.
Improper functioning of bone marrow (bone marrow
25 out of 25 patients had some kind of hematologic
Results in low levels of circulating blood
cells (hematologic abnormalities) = could include: low white blood cells
(neutropenia) - most common - neutrophils fight infection.
Low levels leads to reduced ability to fight
recurrent respitory infections (pneumonia)
infections of middle ear (otitis media)
illness can often be severe
Neutropenia occured in 22 out of 25 patients
Severe neutropenia occured in 15 out of 25 patients
Leukopenia occured in 13 out of 25 patients
Anemia occured in 14 out of 25 patients studied.
Thrombocytopenia occured in 15 out of 25 cases
Leukemia occured in 3 out of 25 patients studied.
Approx 40% of patients had abnormalities affecting
all three cell lines (red cells, white cells and platelets).
Low platelets (thromboocytopenia).
Low red blood cells (anemia).
And/or low levels of all blood cells (pancytopenia).
14 out of 25 patients had life threatening
12 out of the 15 patients with marked neutropenia
had life threatening infections.
2 out of 10 patients without marked neutropenia
had life threatening infections.
3 out of 25 patients had life threatening
infections and died.
Additional physical abnormalities.
&/or developmental delay.
Shwachman Syndrome Bibliography
Alphabetic listing on publication title:
Shwachman Syndrome: Understanding
the Disease. Peter Durie, The Hospital for Sick Children,Toronto, Ontario,
"In 1964, DR.
Harry Shwachman first described children who had exocrine pancreatic
and hematologic abnormalities. Identical observations were made by Dr. Bodian
the same year. These reports recognised that Shwachman Syndrome was probably
an inherited condition affecting multiple organs in the body. Additional reports
of a larger number of patients have allowed us to develop a more detailed
understanding of the clinical manifestations of Shwachman Syndrome. The two
largest series to date were reports of 21 cases by Dr Aggett in 1980 and in
1996 a report of 25 cases by our group."
A Case of Shwachman's
syndrome: evaluation of hemopoietic disorder by in vitro culture technique.
Ikuta K. Sasaki H. Koiso Y. Kawashima T. Ohnishi S. Matsuyama S. Japanese
Journal of Clinical Hematology. 21. 1989-1991. 1980.
A case of Shwachman Syndrome
with increased spontaneous chromosome breakage. Tada H et al. Hum Genet Nov
1987 77(3) Pp 289-91.
A randomised controlled
Phase III trial of Rh-GCSF for treatment of severe chronic neutropenia. Dale
D et al. Blood 81:2496-2502, 1993.
of 125 cases to determine the risk of myelodysplasia and leukemia in pediatric
neutropenic patients after treatment with recombinant human granulocyte-stimulating
factor. Imashuku S et al. Blood 81: 2380, 1994.
Aberrant phagocyte function in Shwachman Syndrome.
Repo H et al. Clin Exp Immunol 69:204-212, 1987.
Acute leukemia complicating bone marrow hypoplasia
in an adult with Shwachman Syndrome. Seymour JF, Escudier SM. Leukemia and
Lymphoma. 12: 131-135, 1993.
Allogenic Bone Marrow Transplantation in a patient
with Shwachman-Diamond Syndrome. Arseniev L et al. Ann Hematol Feb 1996 72(2)
An inherited defect of neutrophil mobility in
Shwachman Syndrome. Aggett PJ et al. J Pediatr 94:391-394,1979.
Aplastic anemia, acquired and inherited. Young
N, Alter B, Ch 17, pp.340-346, Saunders, Philadelphia, 1994.
Aplastic anemia associated with the Shwachman
Syndrome: in vivo and in vitro observations. Woods WG. Krivit W. Lubin BH.
Ramsay NKC. Am J of Pediatr Hematology/Oncology 3 347-351. 1981a
Association of Pancreatic Insufficiency and
Chronic Neutropenia in Childhood. Burke V et al. Arch Dis Child 42: 147-157,
Bone marrow transplant in Shwachman Diamond
Syndrome. Barrios NJ, Kirkpatrick DV. British Journal of Haematology, 79,
Childhood monosomy 7: epidemiology, biology,
and mechanistic implications. Luna-Fineman S, Shannon KM, Lange BJ. Blood
Computed tomography and ultrasonographic findings
for an adult with Shwachman Syndrome and pancreatic lipomatosis. MacMaster
SA, Cummings TM. Can Assoc Radio J 1993:44:301-304.
Congenital hypoplasia of the exocrine pancreas.
Bodian M, Sheldon W, Lightwood R. Acta Paediatr 1964; 53:282-293
Congenital Neutropenia and the risk of leukemia.
Boxer L, Dale D. J Pediatr 130:335, 1997.
Constant defect in neutrophils locomotion but
with age decreasing susceptibility to infection in Shwachman Syndrome. Ruutu
P. Savilahti E, Repo H Kosunen TU. Clin Exp Immunol 1984: 57: 249-255.
Correction of defective chemotaxis with thiamine
in Shwachman Diamiond Syndrome. Szuts P et al. Lancet 1:1072-1073, 1984.
Fatal cyclophosphamide-induced congestive heart
failure in a 10 year old boy with Shwachman-Diamond Syndrome and severe bone
marrow failure treated with allogeneic bone marrow transplantation. Tsai PH.
Sahdev I, Herry A, Lipton JM. Am J of Pediatr Hematology/Oncology 3. 347-351.
Fatty Iniltration of the pancreas in Shwachman's
Syndrome: Computerised tomography demonstration. Kurdziel et al. Eur J Radiol
1984 4 Pp 202-04
Frequent myocardial lesions in Shwachman's
Syndrome - eight fatal cases among 16 Finish patients. Savilahti E, Rapola
J, Acta Paediatrica Scandinavia 73, 642. 1984
G-CSF and congenital neutropenia-risk of leukemia?
Corey SJ, Deshpande R. J Pediatr 129:187, 1996.
Granulopoiesis in Shwachman Syndrome. Saunders
EF et al. Pediatrics 64:515-519, 1979.
Haematological abnormalities in Shwachman Diamond
Syndrome. Smith OP (National Children's Hospital Dublin), Hann IM, Chessells,
Reeves RB, Milla P, Departments of Haematology and Gasteroenterology, Great
Ormond St Hospital for Children, London and Institute of Child Health, London.Brit
J Haematol 94: 279-284, 1996.
........concluded that patients with Shwachman
Diamind Syndrome ....."should be considered to be very high risk for development
of acuter leukaemia, and we would suggest that they should have a regular
bone marrow cytogenic analysis pervformed. If a clonal cytogenetic abnormality
is detected, then early bone marrow transplantation should be considered."
Hemopoietic colony-forming cells in Shwachman's
Syndrome. Suda T et al. Am J Ped Hem Onc 4:129-133, 1982.
Hereditary and childhood disorders of the pancreas,
in Gastrointestinal Disease. Lopez MJ, Grand RJ. 6th Edition, Sleisenger MH
and Fortdtran, JS (editors) Philadelphia, WB Saunders & CO, 1997.
Hereditory disorders of the pancreas. Gaskin
KJ et al. Ped Gastrointestinal disease, Volume 2 Philadelphia: BC Decker,
Hormonal control of growth and the impact on
chronic disease. Hintz RL. Inflamm Bowel Dis 1995: 1:313-330
Human Granulocyte Colony -stimulating factor
(rHuG-CSF) for treatment of neutropenia in Shwachman- Syndrome. Ventura A
et al. Haematologica (May-June 1995) 80(3) Pp 227-29
Hypothesis: Shwachman Syndrome of exocrine pancreatic
insufficiency may be caused by neonatal copper deficiency. Paterson CR, Wormsley
KG. Ann Nutr Metab 1988: 32 127-132.
In vitro restoration by Lithium of defective
chemotaxis in Shwachman-Diamond Syndrome. Azzara A et al. Br. J Haematol 4:502.
In vivo effectiveness of lithium on impaired
neutrophil chemotaxis in Shwachman-Diamiond Syndrome. Azzara A et al. Acta
Haematool 85:100-102, 1991. -
Increased whole blood chemiluminescence in patients
with Shwachman Syndrome: therapy trial with thiamine and alpha-tocopherol.
Ristola M et al. Eur J Pediatr 150: 173-178, 1991.
Investigation and management of pancreatic disease
in children. Pncreatic disease in Clinical Practice. Milla PJ. (ed by Mitchell
CJ and Kelleher J) Ch 19 pp 291-308 Pitman Medical, Tunbribge Wells, England.
Is Shwachman Syndrome a chromosomal breakage
syndrome? Koiffman CP, Gonzales CH, Souza DH, Romani EG, Kim CA, Wajntal A.
Human Genetics 87 106-107. 1991
Late presentation of Shwachman's Syndrome. Hislop
WS et al. Acta Paediatry
Long term safety of treatment with recombinant
human granulocyte colony stimulating factor (r-metHuG-CSF) in patients with
severe congenital neutropenias.Bonilla MA, Dale D, Zeidler C, Last L, Reiter
A, Ruggeiro M, Davis M , Koci B, Hammond W, Gillio A, Welte K. British Journal
of Haematology 88 723-730. 1994
Metaphyseal Chrondrodysplasia, Neutropenia and
Pancreatic Insufficiency Prersenting with Respiratory Distress in the Neonatla
Period. Danks DM et al. Arch Dis Child 51: 697-701, 1976.
Metaphyseal Chondrodysplasia and Dwarfism, Pancreatic
Insufficiency, and Neutropenia. Stanley P and Sutcliffe J. Pediatr Radiol
Metaphyseal Dysostosis and the Associated Syndrome
of Pancreatic Insufficiency and Blood Disorders. Taybi H, Mitchell A and Friedman
G. Radiology 93:563-571. 1969
Monsomy 7 and activating RAS mutations accompanying
malignant transformation in patients with congenital neutropenia. Kalra R
et al. Blood 86: 4579-4586, 1995.
Nephrocalcinosis in Shwachman's Syndrome. D'Angio
CT et al. Arch Dis Child (Apr 1989 6494) Pp 614-615.
Nutritional regulation of IGF-1 and 1GFBPs.
Underwood LE. J Pediatr Endocrinol Metab 1996: 9(suppl 3): 303-312.
Orthopedic Aspects of Shwachman Syndrome. Perry
L Schoenecker, MD Chief of Staff, St Loius Children's Hospital & Professor,
Orthopedic Surgery, Washingtion University School of Medicine
Orthopedic Features of Shwachman Syndrome. Dhar
S and Anderton JM. J Bone Joint Surg 76A:278-282, 1994
Pathogenesis, Biology and management of myelodysplastic
syndrome in children. Haas O, Gadner H. Semin Hematol 33:225-235, 1996
Phase III randomised multicenter trial of G-CSF
vs observation for myelodydplastic syndrome. Greenberg P et al. Blood 82 (10,
S1:769), 196a, 1993 -
Psychological characteristics of children with
Shwachman Syndrome, Kent A et al. Archives of Diseases in Childhood (1990;
65) Pp 1349-52.
Recombinant human G-CSF in treatment of patients
with neutropenia. Boxer L, Hutchinson R, Emerson S.Clin Immunol Immunopathol
Respiratory Aspects of Shwachmans Syndrome in
Adults. Wiggins J et al; Eur Respir J (Mar 1989 2(3) Pp 285-288
RHG-CSF for Shwachman's Syndrome. Adachi N,
Tsuchiya H. Nunol H. Higuchi S, Akaboshi I. Chikazowa W. Lancet 336. 1139.
Shwachman Diamond Syndrome presenting as hepatosplenomegaly.
Wilschanski M et al. J Pedaitr Gastroenterol Nutr 1994: 19:111-113.
Shwachman-Diamond Syndrome and matched unrelated
donor BMT. Smith OP, Chan MY, Evans JP, Veys P. Bone Marrow Transplantation.
16. 717-718. 1995
Shwachman-Diamond Syndrome: Clinical, Radiological,
and Sonographic findings. Berrocal T et al. Pediatr Radiol 1995 25(5) Pp 356-59.
and 25(4) Pp 289-92
Shwachman's Syndrome and acute lymphoblastic
leukaemia, Stevens MJ, Lileyman JS, Williams RB. British Medical Journal.
II 18-20. 1978 -
Shwachman Syndrome and Chromosone Breakage.
Fraccaro M et al. Human Genetics 1988 79 p194
Shwachman Syndrome and leukaemia. Caselitz
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EP et al. J Comput Assist Tomogr 1993: 17: 474-476.
Shwachman's Syndrome - a review of 21 cases.
Aggett PJ, Cavanagh NPC, Matthew DJ Pincott JR, Sutcliffe J, Harries JT. Arch
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Shwachman Syndrome: Exocrine pancreatic dysfunction
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MH, Durie PR. Gastroenterology 1996; 111:1593-1602
Shwachman Syndrome - Online Mendelian Inheritance
of Man (OHIM) McKusick VA, Editor John Hopkins University Entry no 260400,
Shwachman Syndrome - The Broad Spectrum of Bony
Abnormalities. McLennan TW and Steinbach HL. Radiology 112:167-173, 1974.
Shwachman Syndrome transformed into leukaemia.
Gretillat F, Delepine N, Taillard F, Desbois JC,, Misset JL. Presse Medicale,
Some clinical observations on the Shwachman
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Steatorrhea and pancreatic insufficiency in
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Arch Dis Child 1982; 83:22-27.
Successful cyclosporin A treatment of aplastic
anemia in Shwachman-Diamond Syndrome. Barrios NJ, Kirkpatrick DV . British
Journal of Haematology, 74, 540-541.
Syndrome of Shwachman and Leukaemia. Huijgens
PC et al. Scand J Haematol 18:20-24, 1977.
The cyclical nature of prepubertal growth. Butler
GE, McKie M, Ratcliffe SG. Ann Human Biol 1990. 177-198.
The occurence of leukemia in patients with Shwachman
Syndrome. Woods W et al. J Pediatr 99:425-428, 1981.
The syndrome of pancreatic insufficiency and
bone marrow dysfunction. Harry Shwachman, Diamond LK, Oski FA, Khaw KT. J
Pediatr 1964; 65:645-663
The syndrome of neonatal copper deficiency.
Ashkenazi A. Levin S. Djaldetti M. Fishel E, Benvenisti D. Pediatrics 52:
Treatment of neutropenia in Shwachman Syndrome
with granulocyte growth factor (G-CSF). Grill J, Bernaudin F, Dresch C, Lemerie
S, Reinert P. Arch Fr Pediatr 1993: 50: 331-333
Unusual surface distribution of concanavalin
A reflects a cytoskeletal defect in neutrophils in Shwachman's Syndrome. Rothbaum
R, Williams D, Daugherty C. Lancet 2:800-801. 1982.